Rh deficiency syndrome is a rare condition associated with absent or markedly reduced Rh antigen expression.


(1) regulator type: suppression of RH locus by homozygous mutations in the RHAG gene

(2) amorph type: homozygosity for a silent allele at the RH locus


RHAG is Rh associated glycoprotein, with the gene at 6p12.3. This gene is also affected in overhydrated hereditary stomatocytosis.


Rh antigen is complex with assembly or transport defective if either Rh or RhAG proteins are missing.


Clinical features:

(1) chronic hemolytic anemia, primarily within the spleen


Laboratory features:

(1) stomatocytes and spherocytes in the peripheral blood smear

(2) abnormal autohemolysis correctable by the addition of glucose

(3) increased red cell fragility

(4) absent (Rh null) or greatly reduced (Rh mod) Rh antigen expression

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