Red cell disorders

Gene: RHAG

Green List (high evidence)

Anaemia, haemolytic, Rh-null, regulator type
>15 unrelated individuals reported; Bi-allelic (Missense and splice site mutations, deletions and duplications) variants identified.

Characterised by no expression of Rh antigens at the surface of red blood cells known to affect RBC morphology and membrane integrity leading to spherocytic haemolytic anaemia, stomatocytosis, and osmotically fragile and shortened life of RBCs. Other features include Unconjugated hyperbilirubinemia (Jaundice) and increased foetal haemoglobin.
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Overhydrated hereditary stomatocytosis
8 families AND 4 unrelated individuals reported; mono-allelic (missense and deletion) variants reported.
*Identified mutation hotspot F65S for RHAG-associated OHST

Overhydrated hereditary stomatocytosis is characterised by macrocytic haemolytic anaemia (severity is variable), overhydrated erythrocytes, temperature-dependent red cell cation leak and peripheral blood smears displaying circulating erythrocytes with slit-like lucencies (stomata). Other features include Jaundice (hyperbilirubinemia), hepatosplenomegaly, chronic anaemia, recurrent respiratory infections.
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Green- Both phenotypes

Created: 9 Sep 2021, 6:12 a.m. | Last Modified: 9 Sep 2021, 6:12 a.m.

Panel Version: 0.81

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Anaemia, haemolytic, Rh-null, regulator type MIM# 268150; Overhydrated hereditary stomatocytosis MIM#185000

Publications

• 30990901
• 28470789
• 4962358
• 18931342
• 21849667
• 23406318