Albertine Donker

Chapter 3 116 Table 1. Continued 3B. X-linked sideroblastic anemia with ataxia due to defects in ABCB7 Clinical presentation and diagnosis • In male patients presenting with the combination of a mild microcytic anemia and ataxia, a defect in ABCB7 should be considered. • Increased protoporphyrin IX concentrations in red blood cells are suggestive of this disorder. Treatment • Treatment of (mild) anemia is not indicated. Family screening* • The proband should be informed about the X-linked inheritance pattern of anemia and ataxia due to ABCB7 defects. Brothers of the proband may be also affected. Sons of the proband are not affected. Daughters of the proband are obligate carrier of the relevant ABCB7 defect and have no or a mildly anemic clinical phenotype. • We recommend offering screening for the ABCB7 mutation: the mother and sisters (for carriership) and the brothers. The spouse should only be checked in case of consanguinity and reproductive age. Daughters of the proband should offered to be checked for carrier ship.