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.
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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)
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Chemical References |
- Hemoglobin, Sickle
- alpha-Globins
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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)
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