Gene Symbol:
HBA2
HGNC:4824
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
16p13.3
Filters:

Definitive classifications

AR
06/28/2023
Evaluated
04/21/2024
Submitted

Strong classifications

alpha thalassemia
Submitted as: OMIM:604131
AR
06/14/2018
Evaluated
11/30/2023
Submitted
erythrocytosis, familial, 7
Submitted as: OMIM:617981
AD
09/30/2020
Evaluated
03/31/2021
Submitted

Supportive classifications

hemoglobin H disease
Submitted as: Orphanet:93616
AR
09/14/2021
Evaluated
09/14/2021
Submitted
Hb Bart's hydrops fetalis
Submitted as: Orphanet:163596
AR
09/14/2021
Evaluated
09/14/2021
Submitted
hemoglobin M disease
Submitted as: Orphanet:330041
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

Heinz body anemia
Submitted as: OMIM:140700
AD
06/14/2018
Evaluated
11/30/2023
Submitted
erythrocytosis, familial, 7
Submitted as: OMIM:617981
AD
07/06/2018
Evaluated
11/30/2023
Submitted
methemoglobinemia, alpha type
AD
03/28/2024
Evaluated
04/21/2024
Submitted

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