COINHERITANCE OF α-THALASSEMIA DECREASES THE RISK OF CEREBROVASCULAR DISEASE IN A COHORT OF CHILDREN WITH SICKLE CELL ANEMIA

被引：48

作者：

Belisario, Andre Rolim ^{[1
,2
]}

Rodrigues, Cibele Velloso ^{[2
,3
]}

Martins, Marina Lobato ^{[2
]}

Silva, Celia Maria ^{[2
]}

Viana, Marcos Borato ^{[1
]}

机构：

[1] Univ Fed Minas Gerais, Dept Pediat, Fac Med, BR-30130100 Belo Horizonte, MG, Brazil

[2] Fundacao Ctr Hematol & Hemoterapia Minas Gerais H, Belo Horizonte, MG, Brazil

[3] Pontificia Univ Catolica Minas Gerais, Belo Horizonte, MG, Brazil

来源：

HEMOGLOBIN | 2010年 / 34卷 / 06期

关键词：

Sickle cell anemia; alpha-Thalassemia (alpha-thal); Prognosis; GENE-CLUSTER HAPLOTYPES; ACUTE SPLENIC SEQUESTRATION; MOLECULAR CHARACTERISTICS; CLINICAL EVENTS; HEMOLYTIC RATE; SEVERITY; STROKE; BRAZZAVILLE; POPULATION; EXPRESSION;

D O I：

10.3109/03630269.2010.526003

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The study estimated alpha-thalassemia (alpha-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-beta(0)-thal). alpha-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 -alpha(3.7)/ alpha alpha and 1.4% -alpha(3.7)/ -alpha(3.7). The presence of alpha-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. alpha-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 alpha-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.

引用

页码：516 / 529

页数：14

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