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.

Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.


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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.