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HBA1 Gene

protein-coding GIFtS: 62

GC16P000166

hemoglobin, alpha 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

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

Aliases
Alpha-globin ^³
CD31 ^²
MGC126895 ^²
MGC126897 ^²
alpha-1-globin ^²

Descriptions
Hemoglobin alpha chain ^³
alpha 1 globin ^²
alpha one globin ^²
alpha-1 globin ^²
hemoglobin alpha 1 globin chain ^²
hemoglobin alpha-1 chain ^²
hemoglobin, alpha 1 ^²

External Ids
HGNC: 4823¹
Entrez Gene: 3039²
UniProtKB: P69905³
Ensembl: ENSG00000206172⁷

Search outside databases for aliases for HBA1 gene

Previous GC identifers: GC16P000243 GC16P000156 GC16P000159 GC16P000143

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

EntrezGene summary for HBA1:

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]

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

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

Gene Wiki entry for HBA1 (Hemoglobin%2C_alpha_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the HBA1 gene

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

HBA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16P000166: (about GC identifiers)

Start:	166,679 bp from pter
End:	167,521 bp from pter
Size:	843 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000016.8 NT_037887.4

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

PDB structures from and Proteopedia :

1A00 (3D)

1A01 (3D)

1A0U (3D)

1A0Z (3D)

1A3N (3D)

1A3O (3D)

1A9W (3D)

1ABW (3D)

1ABY (3D)

1AJ9 (3D)

1B86 (3D)

1BAB (3D)

1BBB (3D)

1BIJ (3D)

1BUW (3D)

1BZ0 (3D)

1BZ1 (3D)

1BZZ (3D)

1C7B (3D)

1C7C (3D)

1C7D (3D)

1CLS (3D)

1CMY (3D)

1COH (3D)

1DKE (3D)

1DXT (3D)

1DXU (3D)

1DXV (3D)

1FDH (3D)

1FN3 (3D)

1G9V (3D)

1GBU (3D)

1GBV (3D)

1GLI (3D)

1GZX (3D)

1HAB (3D)

1HAC (3D)

1HBA (3D)

1HBB (3D)

1HBS (3D)

1HCO (3D)

1HDB (3D)

1HGA (3D)

1HGB (3D)

1HGC (3D)

1HHO (3D)

1IRD (3D)

1J3Y (3D)

1J3Z (3D)

1J40 (3D)

1J41 (3D)

1J7S (3D)

1J7W (3D)

1J7Y (3D)

1JY7 (3D)

1K0Y (3D)

1K1K (3D)

1KD2 (3D)

1LFL (3D)

1LFQ (3D)

1LFT (3D)

1LFV (3D)

1LFY (3D)

1LFZ (3D)

1LJW (3D)

1M9P (3D)

1MKO (3D)

1NEJ (3D)

1NIH (3D)

1NQP (3D)

1O1I (3D)

1O1J (3D)

1O1K (3D)

1O1L (3D)

1O1M (3D)

1O1N (3D)

1O1O (3D)

1O1P (3D)

1QI8 (3D)

1QSH (3D)

1QSI (3D)

1QXD (3D)

1QXE (3D)

1R1X (3D)

1R1Y (3D)

1RPS (3D)

1RQ3 (3D)

1RQ4 (3D)

1RQA (3D)

1RVW (3D)

1SDK (3D)

1SDL (3D)

1SHR (3D)

1SI4 (3D)

1THB (3D)

1UIW (3D)

1VWT (3D)

1XXT (3D)

1XY0 (3D)

1XYE (3D)

1XZ2 (3D)

1XZ4 (3D)

1XZ5 (3D)

1XZ7 (3D)

1XZU (3D)

1XZV (3D)

1Y01 (3D)

1Y09 (3D)

1Y0A (3D)

1Y0C (3D)

1Y0D (3D)

1Y0T (3D)

1Y0W (3D)

1Y22 (3D)

1Y2Z (3D)

1Y31 (3D)

1Y35 (3D)

1Y45 (3D)

1Y46 (3D)

1Y4B (3D)

1Y4F (3D)

1Y4G (3D)

1Y4P (3D)

1Y4Q (3D)

1Y4R (3D)

1Y4V (3D)

1Y5F (3D)

1Y5J (3D)

1Y5K (3D)

1Y7C (3D)

1Y7D (3D)

1Y7G (3D)

1Y7Z (3D)

1Y83 (3D)

1Y85 (3D)

1Y8W (3D)

1YDZ (3D)

1YE0 (3D)

1YE1 (3D)

1YE2 (3D)

1YEN (3D)

1YEO (3D)

1YEQ (3D)

1YEU (3D)

1YEV (3D)

1YFF (3D)

1YG5 (3D)

1YGD (3D)

1YGF (3D)

1YH9 (3D)

1YHE (3D)

1YHR (3D)

1YIE (3D)

1YIH (3D)

1YVQ (3D)

1YVT (3D)

1YZI (3D)

1Z8U (3D)

2D5Z (3D)

2D60 (3D)

2DN1 (3D)

2DN2 (3D)

2DN3 (3D)

2DXM (3D)

2H35 (3D)

2HBC (3D)

2HBD (3D)

2HBE (3D)

2HBF (3D)

2HBS (3D)

2HCO (3D)

2HHB (3D)

2HHD (3D)

2HHE (3D)

2W6V (3D)

2W72 (3D)

2YRS (3D)

3B75 (3D)

3D17 (3D)

3D7O (3D)

3HHB (3D)

4HHB (3D)

6HBW (3D)

Secondary accessions: P01922 Q1HDT5 Q3MIF5 Q53F97 Q96KF1 Q9NYR7 Q9UCM0

Post-translational modifications:

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

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000549.1

ENSEMBL proteins:

ENSP00000380899 ENSP00000322421

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for HBA1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Hemoglobin, Hemoglobin A1c)
	Human Recombinant Proteins from Abnova (HBA1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

Antibodies for HBA1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of HBA1
	Sigma-Aldrich Antibodies for HBA1
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Hemoglobin, Hemoglobin A1c), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (HBA1)
	Novus Biologicals Antibodies for HBA1

Assays for HBA1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HBA1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HBA1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000558

Applied Biosystems Silencer® siRNAs for HBA1

Sigma-Aldrich siRNA for HBA1

Sigma-Aldrich shRNA for HBA1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for HBA1
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_000558
Myc/DDK tagged cDNA clone in CMV expression vector: NM_000558
untagged cDNA clones in CMV expression vector (see all 2): NM_000558

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000558

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

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

Genatlas biochemistry entry for HBA1:

hemoglobin,alpha 1,adult

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

5/11 Interacting proteins for HBA1 (ENSP00000322421³ P69905^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 11 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HBB	P68871¹^,²	EBI-714680, EBI-715554 MINT-24813 EBI-714680, EBI-715554 MINT-24813
AHSP	Q9NZD4¹	EBI-714680, EBI-720250
HBB	P68871¹^,²	EBI-714680, EBI-715554 MINT-24813 EBI-714680, EBI-715554 MINT-24813
CTSD	P07339²	MINT-3974347
HBG2	P69892²	MINT-24785

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for HBA1
1 Novoseek chemical compound relationship for HBA1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
oxygen	0.00	1	11857738 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (HBA1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (HBA1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000558

Sigma-Aldrich siRNA for HBA1

Sigma-Aldrich shRNA for HBA1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000558

REFSEQ mRNAs for HBA1 gene:

NM_000558.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000558

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000558
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_000558
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000558

Additional cDNA sequence:

AF105974.1 AF281258.1 AF349571.1 AK223392.1 BC101846.1 BC101848.1 CR590481.1 CR591912.1

CR594455.1 CR594768.1 CR595290.1 CR597175.1 CR601946.1 CR602364.1 CR603054.1 CR604936.1

CR605579.1 CR605748.1 CR606053.1 CR606087.1 CR607972.1 CR611699.1 CR612274.1 CR612399.1

CR613306.1 CR616078.1 CR616441.1 CR618304.1 CR618751.1 CR619429.1 CR619550.1 CR619822.1

CR620969.1 CR622618.1 CR623359.1 CR623372.1 CR624135.1 CR625613.1 CR625739.1 CR626195.1

24/38 DOTS entries (see all 38 ):

DT.95275579 DT.92474555 DT.87006562 DT.100854998 DT.454828 DT.100860413 DT.95235785 DT.86992853

DT.87007649 DT.95073457 DT.95275550 DT.100863766 DT.95275573 DT.92474634 DT.100833672 DT.100763115

DT.100831289 DT.102840366 DT.87005366 DT.95275558 DT.95275543 DT.100758728 DT.92474569 DT.100758729

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

H94984 AA333751 H47491 BX406172 H82321 BC032122 CR619550 AA358935

CD608967 AA343428 H38915 AA338183 BU070898 CR624135 CR611699 AA321370

CR601289 AA329584 AA343429 CR607347 AJ706108 N52386 CR599410 R94268

highest scoring ESTs for HBA1:

AA179947 AA321440 AA331074 AA331232 AA331293 AA340470 AA341862 AA341920 AA341967 AA342576

Unigene Cluster for HBA1:

Hemoglobin, alpha 1

Hs.449630 [show with all ESTs]

Unigene Representative Sequence: BQ709225

GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:

ENST00000397797 ENST00000320868

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

HBA1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for HBA1

¹ / ² / ³

13 probe-sets matching HBA1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
31525_s_at²^{, 3}	U95-A	2	1.00	0.50	1.00	1.00	J00153	0.20	0.33	0.27	1
209458_x_at²^{, 3}	U133-A	2	1.00	0.50	--	--	AF105974	0.60	0.62	0.61	1
204018_x_at²^{, 3}	U133-A	2	1.00	0.50	--	--	NM_000558	0.40	0.50	0.45	1
211745_x_at²^{, 3}	U133-A	2	1.00	0.50	--	--	BC005931	0.60	0.62	0.61	1
211699_x_at²^{, 3}	U133-A	2	1.00	0.50	--	--	AF349571	0.60	0.62	0.61	1
217414_x_at²	U133-A	2	0.91	0.46	--	--	--	--	--	--	--
214414_x_at²^{, 3}	U133-A	2	0.82	0.41	--	--	T50399	0.20	0.50	0.38	1
209458_x_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
204018_x_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
211745_x_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
211699_x_at²	U133Plus2	2	1.00	0.50	--	--	--	--	--	--	--
217414_x_at²	U133Plus2	2	0.91	0.46	--	--	--	--	--	--	--
214414_x_at²	U133Plus2	2	0.82	0.41	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.449630
UniProtKB/Swiss-Prot: HBA_HUMAN, P69905
Tissue specificity: Red blood cells

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for HBA1 gene from 3 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
rat (Rattus norvegicus)	LOC360504¹	--	hemoglobin alpha 2 chain	79.81(n) 78.87(a)	360504 NM_001007722.1 NP_001007723.1
mouse (Mus musculus)	Hba-a2⁵ Hba-a1¹	11 (16.00 cM)⁵	hemoglobin alpha, adult chain 2⁵ hemoglobin alpha, adult chain 1¹	80.75(n)¹ 85.92(a)¹	15122¹ NM_008218.1¹ NP_032244.1¹ AA109900⁵ AK002222⁵ (see all 21)
chicken (Gallus gallus)	HBA1¹	--	hemoglobin, alpha 1	73.94(n) 70.42(a)	416652 NM_001004376.2 NP_001004376.1

About this table Species with no ortholog for HBA1

ENSEMBL Gene Tree for HBA1

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

Paralogs for HBA1 gene

HBA2¹ ² HBQ1² HBZ² HBM² HBZP²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/62 NCBI SNPs in HBA1 are shown (see all 62 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 26)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2858942^1,2	C,F,H	165653(+)	`TGGTCC/ACCTTG`	1	--	ng5¹		4		EU EA WA	412
--	rs33991910^1,2	C	167405(+)	`AATACA/C/G/T GTTAA`	3	R/S R/G R/C	mis¹		0	--	--	--	--
--	rs33935328^1,2	C	167406(+)	`ATACCA/C/G/T TTAAG`	3	R/H R/P R/L	mis¹		0	--	--	--	--
--	rs11864706^1,2	A	167481(+)	`GCACCC/GGTACC`	1	--	ut3¹ ese³		0	--	--	--	--
--	rs28928884^1,2	C	167291(+)	`TAAGCC/TACTGC`	1	H/Y	mis¹ ese³		0	--	--	--	--
--	rs1061009^1,2	C	167102(+)	`GCGCAA/C/GAAGCT`	2	H/Q	mis¹ ese³		0	--	--	--	--
--	rs72763685^1,2	--	165386(+)	`AACATA/CACTTT`	1	--	ng5¹		0	--	--	--	--
--	rs67645130^1,2	--	166439(+)	`CCTGCC/TCCCGG`	1	--	ng5¹		0	--	--	--	--
--	rs63750023^1,2	--	167087(+)	`CTGAGA/C/GGACCT`	2	S/R	mis¹		0	--	--	--	--
--	rs35329201^1,2	--	167292(+)	`AAGCCA/GCTGCC`	1	H/R	mis¹		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for HBA1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 141800

UniProtKB/Swiss-Prot: HBA_HUMAN, P69905

Defects in HBA1/HBA2 may be a cause of Heinz body anemias [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/HBA2 are the cause of alpha-thalassemia [MIM:141800, 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

Alpha(0)-thalassemia is associated with nonimmune hydrops fetalis [MIM:236750]. Hydrops

fetalis is a generalized edema of the fetus with fluid accumulation in the body cavities

2 Novoseek disease relationships for HBA1 gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
thalassemia	58.11	1	14978697 (1)
niddm	29.42	1	8159099 (1)

About this table

1 PharmGKB disease relationship for HBA1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
alpha-Thalassemia	GN	2537793

About this table

GeneTests: HBA1

Alpha-Thalassemia

Human Gene Mutation Database: HBA1
Genetic Association Database: HBA1
Human Genome Epidemiology Navigator: HBA1 (146 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/345 PubMed articles for HBA1 gene (see all 345 ):

A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PubMed id 16728641)^{3, 4} De Gobbi M.... Higgs D.R. (2006)
A novel 33.3 kb deletion (- -KOL) in the alpha-globin gene cluster: a brief report on deletional alpha-thalassaemia in the heterogeneous eastern Indian population. (PubMed id 16042697)^{3, 6} Sarkar A.A....Dasgupta U.B. (2005)
Molecular and clinical features of Hb H disease in northern Thailand. (PubMed id 15921165)^{3, 6} Charoenkwan P....Sanguansermsri T. (2005)
Associations between frequencies of a susceptible TNF-alpha promoter allele and protective alpha-thalassaemias and malaria parasite incidence in Vanuatu. (PubMed id 15941417)^{3, 6} Ubalee R....Hirayama K. (2005)
Prevalence of alpha-globin gene deletions among patients with unexplained microcytosis in a North-American population. (PubMed id 15768555)^{3, 6} Bergeron J....Soulieres D. (2005)
A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu-->Arg (alpha2). (PubMed id 15921163)^{3, 4} Martin G.... Benavente C. (2005)
Detection of three common, deletional alpha-thalassemia determinants in Southern China by a single-tube multiplex polymerase chain reaction method. (PubMed id 15008263)^{3, 6} Liu J.Z....Chen L.C. (2004)
Characterization of hemoglobin bassett (alpha94Asp-->Ala), a variant with very low oxygen affinity. (PubMed id 15495251)^{3, 4} Abdulmalik O.... Asakura T. (2004)
The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)^{3, 4} Martin J.... Pennacchio L.A. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{3, 4} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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, and/or H-InvDB)
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Entrez Gene: 3039	HGNC: 4823	AceView: HB_	Ensembl:ENSG00000206172	euGenes: HUgn3039
ECgene: HBA1	H-InvDB: HBA1

(According to HUGE)
About This Section

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

Name	Description
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.genetests.org/query?gene=HBA1
GeneReviews	http://www.genetests.org/query?gene=HBA2
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HBA1
Wikipedia	http://en.wikipedia.org/wiki/Hemoglobin

Licensable Technologies for HBA1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for HBA1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for HBA1-related products

	Millipore Custom Antibody & Bulk Services
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HBA1 Gene

protein-coding GIFtS: 62

Aliases &
Descriptions
for HBA1

Summaries
for HBA1

Genomic Location
for HBA1

Proteins
for HBA1

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for HBA1

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for HBA1

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for HBA1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

HBA1 Gene

protein-coding GIFtS: 62

Aliases & Descriptionsfor HBA1

Summariesfor HBA1

Genomic Locationfor HBA1

Proteinsfor HBA1

Protein Domains/Familiesfor HBA1

Gene Functionfor HBA1

Pathways & Interactionsfor HBA1

Drugs & Compoundsfor HBA1

Transcriptsfor HBA1

Expression for HBA1

Orthologsfor HBA1

Paralogsfor HBA1

SNPs/Variantsfor HBA1

Disorders & Mutationsfor HBA1

Medical Newsfor HBA1

Publicationsfor HBA1

Search for HBA1

Genome Databases showing HBA1

Other Databases showing HBA1

Specialized Databases showing HBA1

Licensable Technologiesfor HBA1

Servicesfor HBA1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for HBA1

Summaries
for HBA1

Genomic Location
for HBA1

Proteins
for HBA1

Protein Domains/
Families
for HBA1

Gene Function
for HBA1

Pathways & Interactions
for HBA1

Drugs & Compounds
for HBA1

Transcripts
for HBA1

Expression
for HBA1

Orthologs
for HBA1

Paralogs
for HBA1

SNPs/Variants
for HBA1

Disorders & Mutations
for HBA1

Medical News
for HBA1

Publications
for HBA1

Licensable Technologies
for HBA1

Services
for HBA1