HBA1 Chromosome 16
Hemoglobin subunit alpha 1
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What This Gene Does
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]
Gene Info
Gene Group
"Hemoglobin subunits|Proteins encoded by multiple genes"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000206172
Associated Conditions (59)
HEMOGLOBIN BUFFALO
alpha Thalassemia
HEMOGLOBIN MAHIDOL
HEMOGLOBIN ASABARA
HEMOGLOBIN G (TAICHUNG)
HEMOGLOBIN Q (THAILAND)
HEMOGLOBIN KURASHIKI
HEMOGLOBIN Q
HEMOGLOBIN G (GEORGIA)
HEMOGLOBIN ST. LUKE'S
HEMOGLOBIN RUSS
HEMOGLOBIN WINNIPEG
HEMOGLOBIN O (PADOVA)
HEMOGLOBIN TWIN PEAKS
HBA1-related disorder
HEMOGLOBIN I (PHILADELPHIA)
HEMOGLOBIN I (TEXAS)
HEMOGLOBIN I
HEMOGLOBIN I (BURLINGTON)
HEMOGLOBIN I (SKAMANIA)
+39 more conditions
Key Variants
RS1061009
Conflicting classifications of pathogenicity
HEMOGLOBIN BUFFALO, HEMOGLOBIN BUFFALO
Health Risk
RS1318437795
Conflicting classifications of pathogenicity
alpha Thalassemia, alpha Thalassemia
Health Risk
RS281864502
Conflicting classifications of pathogenicity
Health Risk
RS281864566
Conflicting classifications of pathogenicity
Health Risk
RS281865560
Conflicting classifications of pathogenicity
Health Risk
RS28928875
Conflicting classifications of pathogenicity
HEMOGLOBIN MAHIDOL, HEMOGLOBIN ASABARA, HEMOGLOBIN G (TAICHUNG)
Health Risk
RS33931314
Conflicting classifications of pathogenicity
HEMOGLOBIN G (GEORGIA), HEMOGLOBIN ST. LUKE'S, HEMOGLOBIN G (GEORGIA)
Health Risk
RS33943087
Conflicting classifications of pathogenicity
Health Risk
RS33960522
Conflicting classifications of pathogenicity
HEMOGLOBIN RUSS, HEMOGLOBIN RUSS
Health Risk
RS33977363
Conflicting classifications of pathogenicity
HEMOGLOBIN WINNIPEG, HEMOGLOBIN WINNIPEG
Health Risk
RS33993166
Conflicting classifications of pathogenicity
HEMOGLOBIN O (PADOVA), HEMOGLOBIN O (PADOVA)
Health Risk
RS34098449
Conflicting classifications of pathogenicity
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1061009 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN BUFFALO, HEMOGLOBIN BUFFALO |
| RS1318437795 | Health Risk | Conflicting classifications of pathogenicity | alpha Thalassemia, alpha Thalassemia |
| RS281864502 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS281864566 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS281865560 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS28928875 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN MAHIDOL, HEMOGLOBIN ASABARA, HEMOGLOBIN G (TAICHUNG) |
| RS33931314 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN G (GEORGIA), HEMOGLOBIN ST. LUKE'S, HEMOGLOBIN G (GEORGIA) |
| RS33943087 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS33960522 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN RUSS, HEMOGLOBIN RUSS |
| RS33977363 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN WINNIPEG, HEMOGLOBIN WINNIPEG |
| RS33993166 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN O (PADOVA), HEMOGLOBIN O (PADOVA) |
| RS34098449 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS35654345 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN TWIN PEAKS, HBA1-related disorder, HEMOGLOBIN TWIN PEAKS |
| RS41407250 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN I (PHILADELPHIA), HEMOGLOBIN I (TEXAS), HEMOGLOBIN I |
| RS41530750 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN HEKINAN, HEMOGLOBIN HEKINAN |
| RS556086584 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS571903706 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS63749882 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN O (BUGINESE-X), HEMOGLOBIN O (OLIVIERE), HEMOGLOBIN OLIVIERE |
| RS63749927 | Health Risk | Conflicting classifications of pathogenicity | HEMOGLOBIN J (BIRMINGHAM), HEMOGLOBIN J (MEERUT), HEMOGLOBIN J (BIRMINGHAM) |
| RS754145030 | Health Risk | Conflicting classifications of pathogenicity | HBA1-related disorder, HBA1-related disorder |
| RS768017043 | Health Risk | Conflicting classifications of pathogenicity | alpha Thalassemia, alpha Thalassemia |
| RS1298047912 | Health Risk | Likely pathogenic | alpha Thalassemia, alpha Thalassemia |
| RS1316527998 | Health Risk | Likely pathogenic | alpha Thalassemia, alpha Thalassemia, alpha Thalassemia |
| RS1318210119 | Health Risk | Likely pathogenic | — |
| RS1455943416 | Health Risk | Likely pathogenic | alpha Thalassemia, Methemoglobinemia, alpha type |
| RS281864571 | Health Risk | Likely pathogenic | Erythrocytosis, familial, 7 |
| RS33978134 | Health Risk | Likely pathogenic | HEMOGLOBIN MILLEDGEVILLE, Erythrocytosis, familial |
| RS35993655 | Health Risk | Likely pathogenic | HEMOGLOBIN TUNIS-BIZERTE, alpha Thalassemia, Heinz body anemia |
| RS604131 | Health Risk | Likely pathogenic | alpha Thalassemia, alpha Thalassemia |
| RS63749948 | Health Risk | Likely pathogenic | HEMOGLOBIN PETAH TIKVA, alpha Thalassemia, Methemoglobinemia |
| RS758093235 | Health Risk | Likely pathogenic | Erythrocytosis, familial, 7 |
| RS770988111 | Health Risk | Likely pathogenic | alpha Thalassemia, alpha Thalassemia |
| RS1201093320 | Health Risk | Pathogenic | Hemoglobin H disease, Methemoglobinemia, alpha type |
| RS1298836193 | Health Risk | Pathogenic | — |
| RS1596573477 | Health Risk | Pathogenic | alpha Thalassemia, Hemoglobin H disease, Methemoglobinemia |
| RS2142021563 | Health Risk | Pathogenic | — |
| RS2505437265 | Health Risk | Pathogenic | Alpha-thalassemia, Dutch type, Alpha-thalassemia |
| RS281864895 | Health Risk | Pathogenic | alpha Thalassemia, alpha Thalassemia |
| RS28928876 | Health Risk | Pathogenic | HEMOGLOBIN M (SENDAI), HEMOGLOBIN M (IWATE), HEMOGLOBIN M (OLDENBURG) |
| RS28928878 | Health Risk | Pathogenic | HEMOGLOBIN ADANA, Hemoglobin H disease, nondeletional |
| RS34021271 | Health Risk | Pathogenic | alpha Thalassemia, alpha Thalassemia |
| RS34220980 | Health Risk | Pathogenic | Erythrocytosis, familial, 7 |
| RS34883113 | Health Risk | Pathogenic | alpha Thalassemia, Hemoglobin H disease, Methemoglobinemia |
| RS63750751 | Health Risk | Pathogenic | alpha Thalassemia, Heinz body anemia, Hemoglobin H disease |
| RS63751150 | Health Risk | Pathogenic | HEMOGLOBIN TAYBE, alpha Thalassemia, Methemoglobinemia |
| RS281864828 | Health Risk | Pathogenic; other | HEMOGLOBIN KANAGAWA, Erythrocytosis, familial |
| RS33935328 | Health Risk | Pathogenic; other | HEMOGLOBIN LEGNANO, Erythrocytosis, familial |
| RS33991779 | Health Risk | Pathogenic; other | HEMOGLOBIN CHESAPEAKE, Erythrocytosis, familial |
| RS33991910 | Health Risk | Pathogenic; other | HEMOGLOBIN NUNOBIKI, Erythrocytosis, familial |
| RS34635364 | Health Risk | Pathogenic; other | Heinz body anemia, HEMOGLOBIN TOYAMA, Heinz body anemia |