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HBA1

hemoglobin subunit alpha 1

HCNC Approved Symbol
HBA1 (HGNC:4823)
Genomic Coordinates
16:176,680 - 177,522 (16p13.3)
Synonyms
HBA-T3
Disease Associations
This gene is associated with the following 5 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Erythrocytosis, familial, 7
617981AD
Heinz body anemias, alpha-
140700AD
Hemoglobin H disease, nondeletional
613978-
Methemoglobinemia, alpha type
617973AD
Thalassemias, alpha-
604131-

Diagnosed Cases

5Patients

In total, 5 patients were diagnosed with a variant in the HBA1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Cyanosis
 3 (60.0%)
Methemoglobinemia
 3 (60.0%)
Patent ductus arteriosus
 2 (40.0%)
Acrocyanosis
 1 (20.0%)
Anaemia
 1 (20.0%)