Hereditary Erythrocytosis
Gene: HBA1Comment on phenotypes: This gene is also associated with Heinz body anemias, alpha-, OMIM:140700; Hemoglobin H disease, nondeletional, OMIM:613978; Methemoglobinemia, alpha type, OMIM:617973; Thalassemias, alpha-, OMIM:604131Created: 23 Mar 2021, 10:10 a.m. | Last Modified: 23 Mar 2021, 10:10 a.m.
Panel Version: 1.27
Comment on list classification: There are some HBB/HBA1/HBA2 variants that cause secondary erythrocytosis due to abnormal oxygen delivery. It is important to note that only the variants cited in the literature should be linked to the Erythocytosis phenotype, as other variants may have links to other hematological phenotypes.Created: 8 May 2017, 11:46 a.m.
Comment on list classification: More than 3 unrelated cases with different variants found in literature search.Created: 5 May 2017, 10:05 a.m.
Phenotypes for gene: HBA1 were changed from Familial erythrocytosis to Erythrocytosis 7, OMIM:617981
09/05/2017 - Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for HBA1 were set to 22274579; 26852627; 27240426; 25669128; 19734427; 23388674; 15921161
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Green List (High Evidence).
Publications for HBA1 were set to 22274579; 26852627; 27240426; 25669128
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HBA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
HBA1 was created by oniblock
HBA1 was added to Hereditary Erythrocytosispanel. Sources: Literature