Abstract

CARTIN-SANCHEZ, Walter; CALDERON-BRENES, Melissa  and  ACEVEDO-VIALES, Karol. Co-inheritance of α+-thalassemia and sickle trait. Acta méd. costarric [online]. 2019, vol.61, n.4, pp.190-194. ISSN 0001-6002.

In this case report we describe the first patient compound heterozygous for type -3.7 alpha+ thalassemia and sickle cell trait in Costa Rica, who was diagnosed from birth by neonatal screening as heterozygous for hemoglobin S. After detection of hemoglobin S by screening, the patient was referred to the Hematology service of the National Children`s Hospital for follow-up, where hemogram with indexes and morphology of red blood cells suggestive of alpha thalassemia is observed, presenting hemoglobin electrophoresis with AS pattern whose relative expression of hemoglobin S was lower tan expected, which led to a molecular study of the alpha globin gene confirming the diagnosis of alpha thalassemia with heretozygous deletion of type -3.7, in co-inheritance with hemoglobin S heterozygosis.

Keywords : hemoglobin A; anemia; alpha thalassemia; hemoglobin S.

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