Τίτλος:
Prevalence of β0 and β+ thalassemia genes in greek children with homozygous βthalassemia
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
In an attempt to estimate the prevalence of β0 and β+thalassemia genes in Greece chromatographic analysis of hemoglobins was performed in 30 children with homozygous βthalassemia prior to any transfusion. In 13 (43% no HbA was detected, suggesting the presence of β0 gene in the homozygous state (β0/β thal). In the remaining 17, HbA showed a bimodal distribution with values ranging from 4-36% The detection of HbA suggests the presence of β+ gene, while the bimodal distribution could be explained by the assumption that the β+ gene in single dose and in combination with β0 gene (β0/β+ thai) results in the production of small amounts of HbA ranging from 4-11% (first curve), while in double dose (β+/β+ thal), in the production of higher amounts of HbA ranging from 24-36% (second curve). The β0/β+ thai was observed in 11 (37% and the βplus;beta;+ thai in 6(20% It is concluded that both β0 and β+genes are common in Greece and chromatographic analysis helps to determine the genotype of patients with homozygous βthalassemia. © 1978 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted.
Συγγραφείς:
Kattamis, C.
Karambula, K.
Metaxotou-Mavromati, A.
Ladis, V.
Constantopoulos, A.
Περιοδικό:
Hemoglobin: Interrnational Journal for Hemoglobin Research
Εκδότης:
Informa Healthcare
Λέξεις-κλειδιά:
hemoglobin a; hemoglobin A; hemoglobin F, beta thalassemia; blood and hemopoietic system; case report; gene frequency; geographic distribution; hemoglobin b; heredity; homozygosity; school child; article; blood; child; gene frequency; genetics; genotype; Greece; homozygote; human; infant; ion exchange chromatography; newborn; preschool child; thalassemia, Child; Child, Preschool; Chromatography, Ion Exchange; Fetal Hemoglobin; Gene Frequency; Genotype; Greece; Hemoglobin A; Homozygote; Human; Infant; Infant, Newborn; Thalassemia
DOI:
10.3109/03630267808999186
