[Atypical familial microcytosis: a familial and genetic study].
The characteristics of familiar atypical microcytosis studied during one year were evaluated. Out of 149 patients with microcytosis in whom iron deficiency was ruled out, a heterogenous beta-thalassemia was diagnosed in 72 cases, a heterozygous delta beta-thalassemia in 16 cases and a hemoglobinopathy in 3 cases. The microcytosis was related to an inflammatory anemia in 12 cases and to an hemopathy in 9 cases. An atypical microcytosis was detected in 37 patients. A familiar and molecular analysis was carried out to detect alpha-thalassemia in cases with atypical microcytosis. It was possible to complete the familiar and molecular analysis in 35 out of 37 cases, and an alpha-thalassemia was observed in 31 patients. Most cases proved to be heterozygous or homozygous-alpha 3.7-thalassemia. No patient with heterozygous alpha zero-thalassemia was found. Most cases of familiar atypical microcytosis in our country are due to -alpha 3.7-thalassemia. Bearing these findings in mind, this analysis should only be used in situations where a problem of prenatal diagnosis is present. Moreover, systematic molecular analysis of familiar atypical microcytosis could be justified if the MCV is lower than 75 fl.
Remacha
A F
AF
Departamento de Hematología, Hospital de la Santa Creu i Sant Pau, Barcelona. afrem@conecta.es
del Río
E
E
Baiget
M
M
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000032:analysis; D003627:Data Interpretation, Statistical; D003937:Diagnosis, Differential; D004586:Electrophoresis; D004909:Erythrocyte Indices; D004913:Erythrocytes, Abnormal; D005784:Gene Amplification; D006453:Hemoglobinopathies / Q000097:blood / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012372:ROC Curve; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
D004247:DNA