RESUMO
A new deletion of more than 27 kb, removing the psi zeta 1, psi alpha 2, psi alpha 1, alpha 2, alpha 1 and theta 1 globin genes has been found in four members of a Spanish family, including two patients with Hb H disease. The 5' end point of the deletion is located between the zeta and psi zeta genes, and the 3' end of the deletion is downstream of the 3' hypervariable region.
Assuntos
Globinas/genética , Talassemia/genética , Adolescente , Adulto , Criança , Deleção Cromossômica , Mapeamento Cromossômico , Cromossomos Humanos Par 16 , Sondas de DNA , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
A new hemoglobin variant with a Ser----Phe substitution at position beta 49(CD8) was discovered in two members of a family living in the Canary Islands, Spain. Detection was by polyacrylamide gel electrophoresis and by reversed phase high performance liquid chromatography. The variant, which constituted 43% and 45%, respectively, in the two heterozygotes, was slightly unstable. Its presence did not affect hematological values though there was a mild reticulocytosis.
