HBA1 Gene (Protein Coding)

Hemoglobin Subunit Alpha 1

GC16P001212
GIFtS:
42
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' untransla... See more...

Aliases for HBA1 Gene

Aliases for HBA1 Gene

  • Hemoglobin Subunit Alpha 1 2 3 5
  • Hemoglobin Subunit Alpha 3 4
  • Hemoglobin, Alpha 1 2 3
  • Hemoglobin Alpha 1 Globin Chain 3
  • Hemoglobin Alpha Chain 4
  • Alpha-2 Globin Chain 3
  • Alpha Globin Chain 3
  • Alpha One Globin 3
  • Delta Globin 3
  • Alpha-Globin 4
  • HBA-T3 3
  • METHBA 3
  • ECYT7 3
  • HBH 3

External Ids for HBA1 Gene

Previous GeneCards Identifiers for HBA1 Gene

  • GC16P000243
  • GC16P000156
  • GC16P000159
  • GC16P000166
  • GC16P000143
  • GC16P000241
  • GC16P000144
  • GC16P000253
  • GC16P000258
  • GC16P000262
  • GC16P000266
  • GC16P000277
  • GC16P000292
  • GC16P000300
  • GC16P000195
  • GC16P000200
  • GC16P000534
  • GC16P000574
  • GC16P001071
  • GC16P000210
  • GC16P000320
  • GC16P000330
  • GC16P000365
  • GC16P000405
  • GC16P000456
  • GC16P000477
  • GC16P000505

Summaries for HBA1 Gene

Entrez Gene Summary for HBA1 Gene

  • 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]

GeneCards Summary for HBA1 Gene

HBA1 (Hemoglobin Subunit Alpha 1) is a Protein Coding gene. Diseases associated with HBA1 include Hemoglobin H Disease and Alpha-Thalassemia. Among its related pathways are Erythrocytes take up carbon dioxide and release oxygen and Effects of Nitric Oxide. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxygen binding. An important paralog of this gene is HBA2.

UniProtKB/Swiss-Prot Summary for HBA1 Gene

  • Involved in oxygen transport from the lung to the various peripheral tissues.

Gene Wiki entry for HBA1 Gene

Additional gene information for HBA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HBA1 Gene

Genomics for HBA1 Gene

GeneHancer (GH) Regulatory Elements for HBA1 Gene

Promoters and enhancers for HBA1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16J000175 Promoter 1.2 EPDnew Ensembl 500.7 -0.1 -50 0.8 ZBTB26 SP2 ZBTB17 POLR2G KLF8 MNT ZNF335 IKZF3 PKNOX1 ZNF189 ENSG00000207243 HBA1 lnc-LUC7L-2
GH16J000172 Promoter 0.8 EPDnew Ensembl 500.7 -3.8 -3750 1 EZH2 HBA1 HBA2 lnc-LUC7L-2 HBZ
GH16J001088 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 4.7 +913.7 913652 3 POLR2G NCOR1 ZIC2 KDM6A RFX1 KLF4 ZBTB25 TGIF2 ZBTB7A SKI HBA1 piR-32214-228 C1QTNF8
GH16J000033 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 3.2 -141.3 -141334 1.8 TARDBP CTBP1 SIN3A MYC SALL2 CTCF E4F1 MBD2 POLR2G MEF2B ENSG00000260803 LUC7L ENSG00000228779 LMF1 IL9RP3 ENSG00000262528 WDR90 SNRNP25 LINC02867 METTL26
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HBA1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HBA1

Top Transcription factor binding sites by QIAGEN in the HBA1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • Sp1

Genomic Locations for HBA1 Gene

Genomic Locations for HBA1 Gene
chr16:176,651-177,522
(GRCh38/hg38)
Size:
872 bases
Orientation:
Plus strand
chr16:226,679-227,521
(GRCh37/hg19)
Size:
843 bases
Orientation:
Plus strand

Genomic View for HBA1 Gene

Genes around HBA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HBA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HBA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HBA1 Gene

Proteins for HBA1 Gene

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  • Protein details for HBA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P69905-HBA_HUMAN
    Recommended name:
    Hemoglobin subunit alpha
    Protein Accession:
    P69905
    Secondary Accessions:
    • P01922
    • Q1HDT5
    • Q3MIF5
    • Q53F97
    • Q96KF1
    • Q9NYR7
    • Q9UCM0

    Protein attributes for HBA1 Gene

    Size:
    142 amino acids
    Molecular mass:
    15258 Da
    Quaternary structure:
    • 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).
    • (Microbial infection) Interacts with Staphylococcus aureus protein isdB.
    Miscellaneous:
    • Gives blood its red color.
    SequenceCaution:
    • Sequence=BAD97112.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HBA1 Gene

neXtProt entry for HBA1 Gene

Protein Expression for HBA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HBA1 Gene

  • The initiator Met is not cleaved in variant Thionville and is acetylated.
  • Glycosylation at Lys8, Lys17, Lys41, and Lys62
  • Modification sites at PhosphoSitePlus

Other Protein References for HBA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HBA1 Gene

Domains & Families for HBA1 Gene

Gene Families for HBA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Protein Domains for HBA1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HBA1 Gene

GenScript: Design optimal peptide antigens:
  • Hemoglobin alpha-1 globin chain variant (E1B2D1_HUMAN)
  • Hemoglobin alpha-1 globin chain (E9M4D4_HUMAN)
  • Hemoglobin alpha 1 (Q6J1Z9_HUMAN)
  • Hemoglobin alpha-1 chain (Q86YL2_HUMAN)
  • Alpha-1 globin (Q86YQ4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P69905

UniProtKB/Swiss-Prot:

HBA_HUMAN :
  • Belongs to the globin family.
Family:
  • Belongs to the globin family.
genes like me logo Genes that share domains with HBA1: view

Function for HBA1 Gene

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Molecular function for HBA1 Gene

UniProtKB/Swiss-Prot Function:
Involved in oxygen transport from the lung to the various peripheral tissues.
GENATLAS Biochemistry:
hemoglobin,alpha 1,adult

Phenotypes From GWAS Catalog for HBA1 Gene

Gene Ontology (GO) - Molecular Function for HBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 contributes_to peroxidase activity IDA 19740759
GO:0005344 oxygen carrier activity IBA,IEA 21873635
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 1552945
GO:0019825 oxygen binding IEA,IBA 21873635
genes like me logo Genes that share ontologies with HBA1: view
genes like me logo Genes that share phenotypes with HBA1: view

Human Phenotype Ontology for HBA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HBA1 Gene

Localization for HBA1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HBA1 gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for HBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 21805676
GO:0005829 cytosol TAS --
GO:0005833 hemoglobin complex TAS,IEA 7555018
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with HBA1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for HBA1 Gene

Pathways & Interactions for HBA1 Gene

genes like me logo Genes that share pathways with HBA1: view

SIGNOR curated interactions for HBA1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HBA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis TAS --
GO:0010942 positive regulation of cell death IDA 19740759
GO:0015671 oxygen transport IEA,TAS 7518430
GO:0015701 bicarbonate transport TAS --
GO:0042542 response to hydrogen peroxide IDA 19740759
genes like me logo Genes that share ontologies with HBA1: view

Drugs & Compounds for HBA1 Gene

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(29) Drugs for HBA1 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma Target 0
Iron Approved, Experimental Pharma Target 1496
Mefloquine Approved, Investigational Pharma Target, antagonist 65
Copper Approved, Investigational Pharma Target 236
Ferric pyrophosphate citrate Approved, Investigational Pharma Target, binder 0
genes like me logo Genes that share compounds with HBA1: view

Transcripts for HBA1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for HBA1 Gene

1 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HBA1

Alternative Splicing Database (ASD) splice patterns (SP) for HBA1 Gene

No ASD Table

Relevant External Links for HBA1 Gene

GeneLoc Exon Structure for
HBA1

Expression for HBA1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HBA1 Gene

mRNA expression in normal human tissues for HBA1 Gene
mRNA expression by BioGPS for HBA1 GenemRNA expression by GTEx for HBA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HBA1 Gene

This gene is overexpressed in Whole Blood (x51.9).

Protein differential expression in normal tissues from HIPED for HBA1 Gene

This gene is overexpressed in Lavage (8.7) and Cerebral cortex (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HBA1 Gene



Protein tissue co-expression partners for HBA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HBA1

SOURCE GeneReport for Unigene cluster for HBA1 Gene:

Hs.449630

mRNA Expression by UniProt/SwissProt for HBA1 Gene:

P69905-HBA_HUMAN
Tissue specificity: Red blood cells.

Evidence on tissue expression from TISSUES for HBA1 Gene

  • Spleen(5)
  • Bone marrow(4.9)
  • Liver(4.9)
  • Blood(4.8)
  • Nervous system(4.8)
  • Lung(4.6)
  • Pancreas(4.1)
  • Heart(4)
  • Muscle(3.3)
  • Intestine(2.9)
  • Skin(2.9)
  • Kidney(2.7)
  • Adrenal gland(2.6)
  • Eye(2.5)
  • Lymph node(2.5)
  • Thyroid gland(2.3)
  • Gall bladder(2.2)
  • Stomach(2.1)
  • Bone(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HBA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • penis
  • placenta
  • testicle
  • urethra
  • uterus
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • shoulder
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • red blood cell
  • skin
  • spinal column
genes like me logo Genes that share expression patterns with HBA1: view

Orthologs for HBA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HBA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia HBA 31 31 30
  • 87.32 (n)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Hba-a2 31
  • 87 (a)
 ManyToMany
Hba-a1 31 30
  • 81.46 (n)
 ManyToMany
dog
(Canis familiaris)
 Mammalia LOC100855558 30
  • 86.85 (n)
HBA 31
  • 84 (a)
 ManyToMany
-- 31
  • 83 (a)
 ManyToMany
rat
(Rattus norvegicus)
 Mammalia LOC287167 30
  • 74.88 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 74 (a)
 ManyToMany
-- 31
  • 49 (a)
 ManyToMany
oppossum
(Monodelphis domestica)
 Mammalia HBA 31
  • 57 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves HBAA 31 30
  • 73.94 (n)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia hba1 30
  • 60.56 (n)
zebrafish
(Danio rerio)
 Actinopterygii HBQ1 31
  • 46 (a)
 OneToMany
Species where no ortholog for HBA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HBA1 Gene

ENSEMBL:
Gene Tree for HBA1 (if available)
TreeFam:
Gene Tree for HBA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HBA1: view image

Paralogs for HBA1 Gene

Paralogs for HBA1 Gene

(10) SIMAP similar genes for HBA1 Gene using alignment to 11 proteins:

  • HBA_HUMAN
  • E1B2D1_HUMAN
  • E9M4D4_HUMAN
  • I1VZV6_HUMAN
  • Q6J1Z9_HUMAN
  • Q86YL2_HUMAN
  • Q86YQ4_HUMAN
  • Q9BX83_HUMAN
  • Q9NQT3_HUMAN
  • U6A216_HUMAN
  • V9GZG8_HUMAN
genes like me logo Genes that share paralogs with HBA1: view

Variants for HBA1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HBA1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
15808 Other: HEMOGLOBIN SAVARIA 173,179(+) C/A MISSENSE_VARIANT
rs1060339 Pathogenic: alpha Thalassemia. Likely Pathogenic: not provided. - 177,040(+) C/AC/Gp.Asn69Lys MISSENSE_VARIANT
rs1061009 Other: HEMOGLOBIN BUFFALO 177,103(+) C/G MISSENSE_VARIANT
rs11548605 Other: HEMOGLOBIN J (NYANZA). - 176,781(+) C/Ap.Ala22Asp MISSENSE_VARIANT
rs121913127 Other: HEMOGLOBIN CHICAGO 177,391(+) C/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for HBA1 Gene

Structural Variations from Database of Genomic Variants (DGV) for HBA1 Gene

Variant ID Type Subtype PubMed ID
dgv2690n100 CNV gain 25217958
esv2422427 CNV duplication 17116639
esv24781 CNV loss 19812545
esv2662940 CNV deletion 23128226
esv2667554 CNV deletion 23128226
esv2676630 CNV deletion 23128226
esv3637547 CNV loss 21293372
esv3637548 CNV loss 21293372
esv3637549 CNV loss 21293372
esv3892753 CNV loss 25118596
nsv1044142 CNV gain 25217958
nsv1698 CNV deletion 18451855
nsv433296 CNV loss 18776910
nsv518291 CNV loss 19592680
nsv519528 CNV loss 19592680
nsv570940 CNV loss 21841781
nsv827473 CNV gain 20364138
nsv977099 CNV duplication 23825009

Variation tolerance for HBA1 Gene

Gene Damage Index Score: 0.10; 2.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HBA1 Gene

Human Gene Mutation Database (HGMD)
HBA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HBA1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HBA1 Gene

Disorders for HBA1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for HBA1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hemoglobin h disease
  • alpha-thalassemia
alpha-thalassemia
  • thalassemia, alpha-
erythrocytosis, familial, 7
  • ecyt7
methemoglobinemia, alpha type
heinz body anemias
  • heinz body anemia
- elite association - COSMIC cancer census association via MalaCards
Search HBA1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HBA_HUMAN
  • Heinz body anemias (HEIBAN) [MIM:140700]: 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. {ECO:0000269 PubMed:2833478}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • Alpha-thalassemia (A-THAL) [MIM:604131]: A form of thalassemia. Thalassemias are common monogenic diseases occurring 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 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). Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.
  • Hemoglobin H disease (HBH) [MIM:613978]: 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. {ECO:0000269 PubMed:10569720}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HBA1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HBA1: view

No data available for Genatlas for HBA1 Gene

Publications for HBA1 Gene

  1. Clustering of malaria treatment failure (TF) in Daraweesh: hints for host genetic susceptibility to TF with emphasis on immune-modulating SNPs. (PMID: 20215002) Giha HA … Arnot D (Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2010) 3 41 54
  2. Rapid diagnosis of alpha-thalassemia by melting curve analysis. (PMID: 20190015) Munkongdee T … Svasti S (The Journal of molecular diagnostics : JMD 2010) 3 41 54
  3. Spectrum of α-globin gene mutations in the Kerman Province of Iran. (PMID: 20854119) Saleh-Gohari N … Khosravi-Mashizi A (Hemoglobin 2010) 3 41 54
  4. Alpha-thalassemia is associated with a decreased occurrence and a delayed age-at-onset of albuminuria in sickle cell anemia patients. (PMID: 20598923) Nebor D … Romana M (Blood cells, molecules & diseases 2010) 3 41 54
  5. Microcytic hypochromic anemia patients with thalassemia: genotyping approach. (PMID: 19359777) Rahim F (Indian journal of medical sciences 2009) 3 41 54

ExternalLinks

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