Abstract
The presence of α-thal in patients with sickle cell disease may favorably alter clinical course and improve survival. The suggestion by Piomelli, et al (Ped Res 20;Abs 778,1986) that a decreased incidence of early, usually thrombotic, CVA may play a role in improving survival prompted us to ascertain the α-globin gene status of our SS population with CVA. Restriction endonuclease analysis using BamHI and BglII was performed on blood of 16 patients ranging in age from 2-10 years(mean 7yrs) at the time of CVA. Fourteen patients had the normal alpha-4 genotype and 2(12.5%) had a single gene “rightward” deletion. One α-thal SS patient developed a left hemiparesis and CAT scan evidence of bilateral infarction at age 27 mos., 2½ mos. after completing a year of regular transfusion for recurrent acute splenic sequestration; hemoglobin at the time of CVA was 7.2gm/dl. In spite of chronic transfusion therapy, she suffered a transient ischemia attack with right hemiparesis 6 years later related to acute anemia(hgb 6.6gm/dl), viral illness, and an enlarged spleen. The other patient with a single gene deletion and SS has done well on regular transfusion since presenting with right hemiparesis at age 7 yrs; hgb was 7.9 gm/dl and MCV 82 fl prior to CVA. The presence of α-thal does not preclude the possibility of CVA in young SS patients; large series with appropriate controls will be required to ascertain the degree to which the risk of CVA maybe reduced.
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Miller, S., Rieder, R., Rao, S. et al. PREVALENCE OF α-THALASSEMIA (α-THAL) IN CHILDREN WITH SICKLE CELL DISEASE (SS) AND CEREBROVASCULAR ACCIDENT (CVA). Pediatr Res 21 (Suppl 4), 302 (1987). https://doi.org/10.1203/00006450-198704010-00811
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DOI: https://doi.org/10.1203/00006450-198704010-00811