April - June 2007, Volume 3, Issue 2

Ioan DM, Enache N

Alpha thalassemia-mental retardation X-linked syndrome. Report on two affected brothers

Acta Endo (Buc) 2007, 3 (2): 209-213
doi: 10.4183/aeb.2007.209

We report ATR/X syndrome in two brothers aged 11 months and 6 years respectively. They were born to young, normal and nonconsanguineous parents, and belong to a sibship of five, the other three sisters being normal and healthy. The diagnosis was suspected on particular craniofacial dysmorphism associated with mental retardation (profound in the older brother and moderate in the younger). Hematological investigations and in particular the presence of HbH inclusions in the red cells (α-thalassemia) were conclusive for the diagnosis. The presence of 1% of HbH inclusions in the red cells of the mother and the pedigree analysis confirmed the X-linked inheritance.

Keywords: X-linked α−thalassemia, mental retardation syndrome, hypotonia, facial dysmorphism hypogenitalism, HbH inclusions

Correspondence: Doina Ioan, PhD, Biologist, Institute of Endocrinology, 34 Aviatorilor Bd., 011863, Bucharest, Romania