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

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.

• Authors: André Rolim Belisário, Cibele Velloso Rodrigues, Marina Lobato Martins, Célia Maria Silva, Marcos Borato Viana
• Journal: Hemoglobin (Hemoglobin) Vol. 34 Issue 6 Pg. 516-29 ( 2010) ISSN: 1532-432X [Electronic] England
• PMID: 21077759 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Hemoglobin, Sickle
• alpha-Globins

Topics

• Adolescent
• Alleles
• Analysis of Variance
• Anemia, Sickle Cell (complications, genetics)
• Brazil (epidemiology)
• Cerebrovascular Disorders (complications, 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, epidemiology, genetics)