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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HBA2 Gene

protein-coding GIFtS: 60
GCID: GC16P000269

hemoglobin, alpha 2

Explore 50 diseases affiliated with
HBA2 via

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hemoglobin, Alpha 2¹ ²		Alpha-2 Globin²
Hemoglobin Alpha Chain² ³		Alpha-Globin¹
HBH²		Hemoglobin Subunit Alpha²
Alpha Globin²		Alpha-Globin¹

External Ids:	HGNC: 4824¹	Entrez Gene: 3040²	Ensembl: ENSG00000188536⁷	OMIM: 141850⁵	UniProtKB: P69905³

Export aliases for HBA2 gene to outside databases

Previous GC identifers: GC16P000242 GC16P000157 GC16P000160 GC16P000162 GC16P000244 GC16P000140 GC16P000252 GC16P000257 GC16P000261 GC16P000265

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HBA2:

The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta -

pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding

sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ

significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal

adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2,

which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from

deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias

have also been reported. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Function: Involved in oxygen transport from the lung to the various peripheral tissues

Gene Wiki entry for HBA2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HBA2 gene promoter:
Sp1 AP-1 ATF-2 c-Jun
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for HBA2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HBA2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3

HBA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HBA2 gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P000269: view genomic region (about GC identifiers)

Start:	222,846 bp from pter	End:	223,709 bp from pter
Size:	864 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905 (See protein sequence)

Recommended Name: Hemoglobin subunit alpha

Size: 142 amino acids; 15258 Da

Subunit: Heterotetramer of two alpha chains and two beta chains in adult hemoglobin A (HbA); two alpha chains and two

delta chains in adult hemoglobin A2 (HbA2); two alpha chains and two epsilon chains in early embryonic hemoglobin

Gower-2; two alpha chains and two gamma chains in fetal hemoglobin F (HbF)

Miscellaneous: Gives blood its red color

Sequence caution: Sequence=BAD97112.1; Type=Erroneous initiation;

6/206 PDB 3D structures from and Proteopedia for HBA2 (see all 206):

1A00 (3D)

1A01 (3D)

1A0U (3D)

1A0Z (3D)

1A3N (3D)

1A3O (3D)

Secondary accessions: P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0

Explore the universe of human proteins at neXtProt for HBA2: NX_P69905

Post-translational modifications:

The initiator Met is not cleaved in variant Thionville and is acetylated¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P69905

HBA2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000508.1

ENSEMBL proteins:

ENSP00000251595 ENSP00000380908

Reactome Protein details: P69905
Human Recombinant Protein Products for HBA2:

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	Novus Biologicals HBA2 Protein Novus Biologicals HBA2 Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for HBA2
	Browse Proteins at Uscn

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--
GO:0005833	hemoglobin complex	TAS	7555018
GO:0022627	cytosolic small ribosomal subunit	IDA	8706699
GO:0031838	haptoglobin-hemoglobin complex	IDA	19740759

HBA2 for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HBA2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR002339 Haemoglobin_pi

IPR012292 Globin_dom

IPR002338 Haemoglobin_a

IPR009050 Globin-like

IPR000971 Globin

Graphical View of Domain Structure for InterPro Entry P69905

ProtoNet protein and cluster: P69905

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Similarity: Belongs to the globin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: HBA_HUMAN, P69905

Function: Involved in oxygen transport from the lung to the various peripheral tissues

Genatlas biochemistry entry for HBA2:

hemoglobin,alpha 2,adult

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004601	contributes to peroxidase activity	IDA	19740759
GO:0005344	oxygen transporter activity	IEA	--
GO:0005506	iron ion binding	IEA	--
GO:0005515	protein binding	IPI	16169070
GO:0019825	oxygen binding	IEA	--

HBA2 for ontologies About GeneDecksing

Phenotypes:
7 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Hba-a1):

cellular	growth/size	hematopoietic system	homeostasis/metabolism	integument
mortality/aging	muscle

HBA2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for HBA2: Hba-a1^Hba-tm1Ywk Hba-a1^Hba-tm1Led

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HBA2

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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBA2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Selenium Pathway

Selenium Pathway

1.00

African trypanosomiasis

African trypanosomiasis

1.00

Malaria

Malaria

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for HBA2

Selenium Pathway

5/7 Reactome Pathways for HBA2 (see all 7)

	Uptake of Carbon Dioxide and Release of Oxygen by Erythrocytes
	Metabolism
	Uptake of Oxygen and Release of Carbon Dioxide by Erythrocytes
	O2/CO2 exchange in erythrocytes
	Scavenging of Heme from Plasma

2 Kegg Pathways (Kegg details for HBA2):

	African trypanosomiasis
	Malaria

HBA2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HBA2

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/36 Interacting proteins for HBA2 (P69905^{1, 2, 3} ENSP00000251595⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 36)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTEN	P60484²^,³, ENSP00000361021⁴	MINT-63919 I2D: score=4 STRING: ENSP00000361021
UBE3A	Q05086²^,³, ENSP00000381045⁴	MINT-8276413 I2D: score=2 STRING: ENSP00000381045
CTSD	P07339²^,³, ENSP00000236671⁴	MINT-3974347 I2D: score=1 STRING: ENSP00000236671
NAP1L1	P55209²^,³	MINT-63873 I2D: score=3
HBB	P68871¹^,²^,³, ENSP00000333994⁴	EBI-714680,EBI-715554 MINT-24813 I2D: score=10 STRING: ENSP00000333994

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0010942	positive regulation of cell death	IDA	19740759
GO:0015671	oxygen transport	TAS	7518430
GO:0015701	bicarbonate transport	TAS	--
GO:0042542	response to hydrogen peroxide	IDA	19740759
GO:0042744	hydrogen peroxide catabolic process	IDA	19740759

HBA2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HBA2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HBA2
10/20 Novoseek chemical compound relationships for HBA2 gene (see all 20) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
23-diphosphoglycerate	45.2	3
hmba	43.6	3	1741249 (2)
iron	42.1	10	12358889 (3), 18676996 (1), 1985702 (1), 1737090 (1) (see all 8)
hydroxyurea	38	3	16019448 (1), 19914848 (1), 11112383 (1)
cellulose acetate	27	2	15359601 (1)
valine	26.7	5	2023247 (2), 8580853 (2), 10956059 (1)
poly c	24.9	1	10606523 (1)
oxygen	20.8	7	2023247 (2), 1427042 (1), 11035948 (1), 19205974 (1) (see all 5)
isoleucine	17.6	1	2023247 (1)
methionine	17	2	8580853 (2)

Search CenterWatch for drugs/clinical trials and news about HBA2 / HBA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HBA2 gene:

NM_000517.4

Unigene Cluster for HBA2:

Hemoglobin, alpha 2

Hs.654744 [show with all ESTs]

Unigene Representative Sequence: BI771544

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000251595(uc002cfv.4) ENST00000397806 ENST00000482565 ENST00000484216

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Additional cDNA sequence:

AF105974.1 AF281258.1 AF349571.1 AK223392.1 BC101846.1 BC101848.1 DQ655926.2 DQ655927.2

24/55 DOTS entries (see all 55):

DT.100763115 DT.87006562 DT.100860413 DT.87007649 DT.92474555 DT.95073457 DT.95275573 DT.454828

DT.87005366 DT.95275550 DT.92474442 DT.100854998 DT.86992853 DT.95235785 DT.95275514 DT.95275579

DT.100833672 DT.100863766 DT.40314843 DT.100758729 DT.100831289 DT.100758728 DT.120689423 DT.120689527

24/2898 AceView cDNA sequences (see all 2898):

AA359582 BM263053 AA300458 R89444 N23732 T56116 AA343426 T55536

AJ706144 AW161306 CR614093 AA340470 H69269 CR625739 AJ706345 R71733

N27746 H70122 N71541 AJ705502 CR624782 R96549 N46980 CD608968

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for HBA2 About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b
SP1:
SP2:					-

ECgene alternative splicing isoforms for HBA2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HBA2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCAACGCGC

About this image

HBA2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Body Subcutaneous White Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Secondary follicles (Primary Cell)

Ovary, Reproductive System

Mesendoderm-like cells (Generation of mesend...)

See HBA2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HBA2

SOURCE GeneReport for Unigene cluster: Hs.654744

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Tissue specificity: Red blood cells

SABiosciences Custom PCR Arrays for HBA2

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In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for HBA2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for HBA2 gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HBAA¹	hemoglobin, alpha 1	73.94(n) 70.42(a)		416652 NM_001004376.2 NP_001004376.1
African clawed frog (Xenopus laevis)	Amphibia	X02798.1²	--	74.06(n)		X02798.1
zebrafish (Danio rerio)	Actinopterygii	si:ch211-5k11.6⁶ hbaa1⁶ (see all 7)	hemoglobin alpha adult-1 (see all 7)	48(a) 45(a) (see all 7)	many ↔ many many ↔ many (see all 7)	3(55945253-55946071) 3(55951717-55957631)

ENSEMBL Gene Tree for HBA2 (if available)
TreeFam Gene Tree for HBA2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HBA2 gene

HBA1¹ ² HBG2² HBE1² CYGB² HBZ² HBD² HBG1² HBB²

HBQ1² HBM²

11 SIMAP similar genes for HBA2 using alignment to 8 protein entries: HBA_HUMAN (see all proteins):

HBA1 HBQ1 G-gamma HBZ HBG1 HBM

HBG2 HBB HBD HBE1 CYGB

HBA2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for HBA2
PGOHUM00000248959

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111033603^1,2	C	pathogenic	222913(+)	`CACCAC/TGGTGC`	2	T M	mis¹		0	--	--	--	--
rs63751457^1,2	C	pathogenic	222980(+)	`GCTGGC/TGAGTA`	2	G	syn¹		0	--	--	--	--
rs41457746^1,2	C	pathogenic	223122(+)	`CCCGCA/GGGATG`	1	--	spa¹		0	--	--	--	--
rs41515649^1,2	C	pathogenic	223215(+)	`AGAAGA/GTGGCC`	2	M V	mis¹		0	--	--	--	--
rs63751178^1,2	C	untested	222915(+)	`CCATGA/C/GTGCTG`	3	M L V	mis¹		0	--	--	--	--
rs33981821^1,2	C	untested	222916(+)	`CATGGA/C/G/T GCTGT`	4	E A G V	mis¹		0	--	--	--	--
rs63750585^1,2	C	untested	222919(+)	`GGTGCC/G/TGTCTC`	3	P R L	mis¹		0	--	--	--	--
rs63750946^1,2	C	untested	222925(+)	`GTCTCA/C/GTGCCG`	3	H P R	mis¹		0	--	--	--	--
rs281864806^1,2	C	untested	222930(+)	`CTGCCA/C/G/T ACAAG`	4	N H D Y	mis¹		0	--	--	--	--
rs281864805^1,2	C	untested	222931(+)	`TGCCGA/C/G/T CAAGA`	4	D A G V	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HBA2 (222846 - 223709 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for HBA2
5 CNVs: 66910 35361 87923 37503 5329
Human Gene Mutation Database (HGMD): HBA2

Locus Specific Mutation Databases (LSDB): HBA2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HBA2

DNA2.0 Custom Variant and Variant Library Synthesis for HBA2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HBA2 for disorders           About GeneDecksing

OMIM gene information: 141850
OMIM disorders: 604131  140700
UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Defects in HBA1 may be a cause of Heinz body anemias (HEIBAN) [MIM:140700]. This is a form of non-spherocytic

hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz

bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most

of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are

observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase

deficiency

Defects in HBA1 are the cause of alpha-thalassemia (A-THAL) [MIM:604131]. The thalassemias are the most common

monogenic diseases and occur mostly in Mediterranean and Southeast Asian populations. The hallmark of

alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain

production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin

genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha

chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no

oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early

neonatal death. The loss of three alpha genes results in high levels of a tetramer of four beta chains (hemoglobin H),

causing a severe and life-threatening anemia known as hemoglobin H disease. Untreated, most patients die in childhood

or early adolescence. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous

alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four

alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are

due to point mutations (non-deletional alpha-thalassemia). The thalassemic phenotype is due to unstable globin alpha

chains that are rapidly catabolized prior to formation of the alpha-beta heterotetramers

Note=Alpha(0)-thalassemia is associated with non-immune hydrops fetalis, a generalized edema of the fetus with

fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in

itself but a symptom, a feature of many genetic disorders, and the end-stage of a wide variety of disorders

Defects in HBA1 are the cause of hemoglobin H disease (HBH) [MIM:613978]. HBH is a form of alpha-thalassemia

due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H),

causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence

20/50 diseases for HBA2 (see all 50): About MalaCards

alpha thalassemia thalassemia hemoglobin constant spring alpha-thalassemia/mental retardation syndrome

hydrops fetalis hypochromic microcytic anemia microcytic anemia beta thalassemia

pyruvate kinase deficiency heinz body anemia iron overload mental retardation syndrome

capillary hemangioma polycystic kidney disease sickle cell disease anemia

herpes simplex hemoglobinopathy ivemark syndrome splenomegaly

19 diseases from the University of Copenhagen DISEASES database for HBA2:

Thalassemia Diabetes mellitus Sarcoma Vascular disease

Vascular cancer Carcinoma Lymphangioma Anemia

Hemangioma Diabetic retinopathy Hyperglycemia Heart disease

Capillary hemangioma Lung disease Hypoglycemia Breast cancer

Kaposi's sarcoma Kidney disease Epithelioid sarcoma

10/29 Novoseek disease relationships for HBA2 gene (see all 29) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alpha-thalassemia	94.7	29	10569721 (2), 9544971 (1), 11960579 (1), 12730694 (1) (see all 23)
beta-thalassemia	87.6	39	18768527 (2), 15931385 (2), 10872480 (1), 10975440 (1) (see all 30)
thalassemia	86.6	24	15025281 (2), 2339704 (1), 17607349 (1), 16696397 (1) (see all 17)
hemoglobinopathies	83.7	7	11042028 (2), 14757425 (1), 1586745 (1), 8811313 (1) (see all 6)
h disease	82.4	5	11551109 (1), 9372271 (1), 9255612 (1), 11122156 (1) (see all 5)
intermedia thalassemia	81.8	5	1634369 (1), 11042028 (1), 14757425 (1), 18932071 (1) (see all 5)
beta thalassemia heterozygous	80.5	1	15025281 (1)
erythroleukemia	66.3	4	1741249 (1), 10223722 (1), 8699328 (1)
hydrops fetalis	62.8	3	9544971 (1), 7550311 (1), 16787871 (1)
sickle cell disease	62.5	3	12673836 (2), 11080057 (1)

GeneTests: HBA2

Alpha-Thalassemia

Genetic Association Database (GAD): HBA2
Human Genome Epidemiology (HuGE) Navigator: HBA2 (5 documents)

Export disorders for HBA2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HBA2 gene, integrated from 9 sources (see all 501):
(articles sorted by number of sources associating them with HBA2)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and complete nucleotide sequence of human 5'-alpha-globin gene. (PubMed id 6452630)^{1, 2, 3} Liebhaber S.A.... Kan Y.W. (1980)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)^{1, 2} Gevaert K.... Vandekerckhove J. (2003)
Influence of alpha-thalassemia trait on the prevalence and severity of anemia in pregnancy among women in Kuwait. (PubMed id 11154980)^{1, 4} Diejomaoh F.M....Adekile A.D. (2000)
Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1]. (PubMed id 10569723)^{1, 2} Lacan P.... Becchi M. (1999)
Crystal structure of a human embryonic haemoglobin: the carbonmonoxy form of Gower II (alpha2 epsilon2) haemoglobin at 2.9-A resolution. (PubMed id 9665850)^{1, 2} Sutherland-Smith A.J....Baker E.N. (1998)
Hb Kurdistan [alpha 47(CE5)Asp-->Tyr], a new alpha chain variant in combination with beta (0)-thalassemia. (PubMed id 8195005)^{1, 2} Giordano P.C.... Bernini L.F. (1994)
Hb Melusine [alpha 114(GH2)Pro-->Ser]: a new neutral hemoglobin variant. (PubMed id 8294199)^{1, 2} Wacjman H.... Galacteros F. (1993)
A third quaternary structure of human hemoglobin A at 1.7-A resolution. (PubMed id 1512262)^{1, 2} Silva M.M.... Arnone A. (1992)
A new alpha chain variant, Hb Hanamaki or alpha 2(139)(HC1)Lys-->Glu beta 2, found in a Japanese family. (PubMed id 1634363)^{1, 2} Orisaka M.... Imai K. (1992)
Hb Davenport or alpha 2(78)(EF7)Asn-->His beta 2. (PubMed id 2101836)^{1, 2} Wilson J.B....Huisman T.H.J. (1990)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3040	HGNC: 4824	AceView: HB_	Ensembl:ENSG00000188536	euGenes: HUgn3040
ECgene: HBA2	Kegg: 3040	H-InvDB: HBA2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HBA2	Pharmacogenomics, SNPs, Pathways
HbVar	http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA1
HbVar	http://globin.bx.psu.edu/cgi-bin/hbvar/query_vars3?mode=directlink&gene=HBA2
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA1
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HBA2
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1
Wikipedia	http://en.wikipedia.org/wiki/Hemoglobin

Intellectual Property for HBA2 gene
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Patent Information for HBA2 gene:
Search GeneIP for patents involving HBA2

GeneCards and IP:
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hemoglobin, alpha 2

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MICROCYTIC ANEMIA
Splenomegaly
Polycythemia
Herpes Simplex
Malaria
Hemoglobinopathies
H DISEASE
ADPKD
Anemia Hemolytic
Erythroleukemia
HEMATOLOGIC DISORDERS
iron deficiency
Thalassemia
Thalassemia Major
Polycystic Kidney Diseases
SICKLE CELL DISEASE
TOXICITY RENAL
Hydrops Fetalis
ACUTE LEUKEMIA
Anemia
Leukemia
ANEMIA SEVERE
Iron Overload
Intermedia thalassemia
alpha-Thalassemia
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genetic disorder
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BETA THALASSEMIA HETEROZYGOUS

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HBA2 Gene

hemoglobin, alpha 2

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