Coinheritance of α-thalassemia decreases the risk of cerebrovascular disease in a cohort of children with sickle cell anemia

Hemoglobin. 2010;34(6):516-29. doi: 10.3109/03630269.2010.526003.

Abstract

The study estimated α-thalassemia (α-thal) prevalence and assessed its associations with clinical and hematological features in a random sample of Brazilian children with sickle cell anemia (208 Hb SS and 13 Hb S-β⁰-thal). α-Thalassemia genotyping was carried out by multiplex polymerase chain reaction (m-PCR) for seven alleles. Clinical and hematological data were retrieved from the 221 children's medical files. Their ages ranged from 2.5 to 10.4 years. Of the Hb SS children, 27.9% carried -α(3.7)/αα and 1.4% -α(3.7)/-α(3.7). The presence of α-thal was significantly associated with reduction in MCV, MCH, WBC values and reticulocyte counts. No significant association with blood transfusion or acute chest syndrome (ACS), was found. α-Thalassemia genotypes were strongly associated with reduction in risk for cerebrovascular disease (CVD) (conditional and abnormal transcranial Doppler or stroke; p = 0.007). The interaction of α-thal with other modulating factors should be investigated in order to define subphenotypes of the disease and to use them as clinical tools in the follow-up care of patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Analysis of Variance
  • Anemia, Sickle Cell / complications
  • Anemia, Sickle Cell / genetics*
  • Brazil / epidemiology
  • Cerebrovascular Disorders / complications
  • Cerebrovascular Disorders / genetics*
  • Child
  • Child, Preschool
  • Cohort Studies
  • DNA Mutational Analysis
  • Gene Frequency
  • Genotype
  • Hemoglobin, Sickle / genetics
  • Humans
  • Polymerase Chain Reaction
  • Prevalence
  • Risk Assessment
  • Risk Factors
  • alpha-Globins / genetics
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / epidemiology
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobin, Sickle
  • alpha-Globins