PATIENTS AT RISK OF THEIR ETHNIC BACKGROUND

Abstract

This article discuss 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 defi ciency, 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 fi brosis: – Mediteraneans: beta-thalasemia (Cooley or mediteranean anemia): – Orientals: alpha-thalasemia; – Polynesians: club foot; – Irish: central nervous system (CNS) defects.

Keywords

• genetic disorders
• ethnic groups (ashkenazi jews
• blacks
• caucasians
• mediteraneans
• orientals
• polynesians
• irish)