Rh deficiency syndrome

Orpha code: 71275OMIM code: 268150

Definition

A rare constitutional hemolytic anemia due to a red cell membrane anomaly characterized by lack or severe reduction of Rh blood group antigens, resulting in increased osmotic fragility of red blood cells and chronic hemolytic anemia of varying severity with stomatocytosis and spherocytosis. Two types of the syndrome arising from independent genetic mechanisms have been distinguished: the regulator type is caused by defects of the Rh associated glycoprotein (encoded by the <i>RHAG</i> gene), while the amorph type is due to mutations at the <i>RH</i> locus itself.

Disease data
Classification

Disease

Synonyms
Rh-null syndrome
Rh-null syndrome
ORPHA code
71275
OMIM code
268150
ICD10 code
D58.8
ICD11 code
-

No additional description.

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