Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia.

[alpha-thalassemia]

To analyze the frequency of β (S )-globin haplotypes and alpha-thalassemia , and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia .The frequency of β (S )-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3 -71 months . The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism , and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single -tube multiplex-polymerase chain reaction ).The genotype distribution of haplotypes was 43 (36 .7 %) Central African Republic /Benin , 41 (35 .0 %) Central African Republic /Central African Republic , 20 (17 .0 %) Rare /atypical , and 13 (11 .1 %) Benin /Benin . The frequency of the α 3 .7 deletion was 1 .71 % as homozygous (-α 3 .7 /-α 3 .7 ) and 11 .9 % as heterozygous (-α 3 .7 /αα ). The only significant association in respect to haplotypes was related to the mean corpuscular volume . The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume , mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count . There were no significant associations of β (S )-globin haplotypes and alpha-thalassemia with clinical manifestations .In the study population , the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common , followed by the Benin haplotype . β (S )-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations .

Diseases
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Diseases presenting "anemia children" symptom

alpha-thalassemia

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