Alpha thalassaemia mental retardation (ATR-X): an atypical family

A novel form of severe, X linked mental retardation associated with alpha thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detec...

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Veröffentlicht in:	Archives of disease in childhood 1994-05, Vol.70 (5), p.439-440
Hauptverfasser:	Logie, L J, Gibbons, R J, Higgs, D R, Brown, J K, Porteous, M E
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent alpha-Thalassemia - genetics alpha-Thalassemia - psychology Anemias. Hemoglobinopathies Biological and medical sciences Diseases of red blood cells Erythrocytes Facial Bones - abnormalities Genetic Linkage Hematologic and hematopoietic diseases Hemoglobin H - analysis Humans Infant, Newborn Intellectual disabilities Intellectual Disability - genetics Male Medical sciences Pediatrics Pedigree Phenotypes Skull - abnormalities Thalassemia X Chromosome
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Beschreibung
Zusammenfassung:	A novel form of severe, X linked mental retardation associated with alpha thalassaemia (ATR-X syndrome) has recently been described. Two affected cousins are described, one of whom has an unusually mild haematological phenotype. HbH inclusions, which are the hallmark of this disease, were only detected in the peripheral red blood cells after repeated observations.
ISSN:	0003-9888 1468-2044
DOI:	10.1136/adc.70.5.439