Alpha-thalassemia genetic testing: an important anemia diagnostic tool in patients of African heritage

Conn Med. 2010 Nov-Dec;74(10):585-7.

Abstract

Inherited alpha-thalassemia genotypes have been shown to have a rather high prevalence in some patient populations of African heritage. These genotypes lead to mild anemia with microcytic indices and a normal hemoglobin electrophoresis. In our outpatient department, we analyzed 54 consecutive patients of African descent with longstanding microcytic anemia, but no evidence of iron deficiency. We detected alpha-thalassemia gene deletions in 94 percent of these patients. Alpha-thalassemia genetic testing appears cost-effective in an otherwise unexplained, longstanding microcytic anemia in patients of African origin.

MeSH terms

  • Anemia, Hypochromic / diagnosis
  • Anemia, Hypochromic / ethnology
  • Anemia, Hypochromic / genetics
  • Black People / genetics*
  • Female
  • Genetic Testing*
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • alpha-Thalassemia / diagnosis*
  • alpha-Thalassemia / ethnology*
  • alpha-Thalassemia / genetics*

Supplementary concepts

  • Anemia, hypochromic microcytic