CLINICAL AND HEMATOLOGIC ASPECTS OF THE X-LINKED ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME (ATR-X)

The hallmarks of the X-linked alpha-thalassemia/mental retardation (AT R-X) syndrome are severe psychomotor retardation, minor facial anomali es, genital abnormalities, and an unusual form of alpha-thalassemia. T he demonstration of HbH inclusions in red blood cells after incubation with brilliant cresyl blue confirms the diagnosis. We describe 15 pre viously unreported cases and analyse the phenotypic and hematologic fi ndings in these subjects and compare them with previously published ca ses. This study demonstrates the consistency of the main characteristi cs of this syndrome and extends the phenotype. Developmental changes i n phenotype, in particular the coarsening of the facial appearance, ar e illustrated. The hematologic findings are shown to vary widely; in s ome cases the manifestation of alpha-thalassemia may be subtle and mis sed without repeated examination. (C) 1995 Wiley-Liss, Inc.