Popescu, Valeriu
November 2009
Romanian Journal of Pediatrics;2009, Vol. 58 Issue 4, p331
Academic Journal
This article presents genetic disorders that appear with increased frequency in certain ethnic groups: - Ashkenazi jews: Tay-Sachs disease, adult Gaucher's disease - type I, Niemann-Pick disease, mucolipidosis (type IV), pentosuria, Bloom syndrome, disautonomia (Riley-Day syndrome), plasma thromboplastin antecedent (PTA) or Factor XI deficiency, spongy degeneration of the central nervous system, dystonia musculorum deformans (torsion dystonia); - Black: sickle cell disease (HbSS), hemoglobin C disease (HbSC), essential hypertension; - Caucasians: cystic fibrosis: - Mediteraneans: beta-thalasemia (Cooley or mediteranean anemia): - Orientals: alpha-thalasemia; - Polynesians: club foot; - Irish: central nervous system (CNS) defects.


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