Alpha-thalassemia

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).

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PMID (PMCID)
15971642	FEMALE	Adult
	[Alpha-thalassemias and bipolar disorders: a genetic link?].
	Damsa C, Borras L, Bianchi-Demicheli F, Andreoli A. Encephale. 2005;31(1 Pt 1):72-5.
	An interesting finding is that the sequencing of 258 kb of the chromosome region 16p13.3 not only allowed the identification of genes involved in the alpha-thalassemia and in the vulnerability to bipolar disorders, but also the identification of genes implicated in tuberous sclerosis, in polycystic kidney disease, in cataract with microophtalmia, and in vulnerability genetic factors for ATR-16 syndrome, asthma, epilepsy, certain forms of autism and mental retardation.