alpha-thalassemia-2 and the variability of hematological values in children with sickle cell anemia.
Seventy children homozygous for Hb S (SS) and their 111 heterozygous (AS) parents were evaluated through their erythrocytic indices, hemoglobin composition, and occasionally through in vitro Hb chain synthesis values. Three groups of SS patients and of AS parents were identified based on differences in degree of microcytosis (MCV) and (degree of hypochromia (MCH) values. The level of Hb S in the Hb S heterozygotes showed a trimodal distribution. Five SS patients had an alpha-thalassemia homozygosity (alpha(0) alpha/alpha(0) alpha; beta(s)/beta(s) which was characterized by a distinct microcytosis and hypochromia (MCV), less than or equal to 70 fl; MCH, less than or equal to 22 pp). Nine SS patients had an alpha-thalassemia heterozygosity (alpha(0)/alpha/alpha alpha; beta(s)/beta(s)) with an MCV value of 71 to 78 fl, and an MCH value of 21.3 to 26.5 pg. Four AS parents had an alpha-thalassemia-2 homozygosity with values of MCV less than or equal to 71 fl and MCH less than or equal to 23.5. The level of Hb S was less than 31%. Thirty-nine AS parents had an alpha-thalassemia-2 heterozygosity characterized by an MCV value of 72 to 79 fl, an MCH value of 23.6 to 26.5, and a level of Hb S ranging between 31.0 and 36.8%. The Hb A2 level in SS patients was significantly correlated with the RBC counts and the MCV and MCH (r = 0.38, -0.52, and -0.47, respectively). Significant correlations in AS parents were also noted between the MCV, MCH, RBC, and Hb S percentages (r = 0.62, 0.68, and -0.49, respectively). Although the data are limited, the simultaneous occurrence of an alpha-thal-2 homozygosity seems to decrease the level of Hb F in sickle cell anemia. The presence of an alpha-thal-2 heterozygosity or homozygosity together with an SS or AS condition resulted in identifiable hematologic phenotypes.
D000293:Adolescent; D000328:Adult; D000368:Aged; D000755:Anemia, Sickle Cell / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D006455:Hemoglobins, Abnormal