Mild Thalassemia Intermedia Due to Interaction of delta beta-Thalassemia with Triplicated alpha-Globin Genes
Por:
Payan-Pernia, S, Noguera, SB, Rodriguez, ER, Ferrer, MS, Sevilla, AFR
Publicada:
3 jul 2020
Ahead of Print:
1 jul 2020
Resumen:
Here we report a Spanish family in which two members, mother and daughter, present with a phenotype of mild non transfusion-dependent thalassemia (NTDT) due to compound heterozygosity for delta beta-thalassemia (delta beta-thal) and the alpha gene triplication alpha alpha alpha(-3.7). They carry the most prevalent form of delta beta-thal in Spain, the so-called Spanish delta beta(0)-thal, which consists of a deletion of 114 kb that affects the delta and beta genes. A mild microcytic anemia [hemoglobin (Hb) 10.6 g/dL and mean corpuscular volume (MCV) 72.8 fL, and Hb 10.9 g/dL and MCV 70.0 fL, respectively], hypocromia [mean corpuscular Hb (MCH), 23.4 and 22.6 pg, respectively], increased red blood cell (RBC) distribution width (RDW) (20.0 and 21.9%, respectively), high fetal Hb (Hb F) (23.7 and 21.6%, respectively) with Hb A(2) within the normal range, and splenomegaly, were present in the affected subjects. In areas were delta beta-thal is prevalent, the interaction with triplicated alpha-globin genes should be suspected in cases of mild NTDT if Hb F is high and Hb A(2) is not increased.
Filiaciones:
Payan-Pernia, S:
Autonomous Univ Barcelona, Hosp Santa Creu & St Pau, Hematol Dept, Barcelona, Spain
Hosp Santa Creu & Sant Pau, Hosp St Joan de Deu, Natl Reference Ctr CSUR Hereditary Red Blood Cell, Barcelona, Spain
Noguera, SB:
Hosp Santa Creu & Sant Pau, Hosp St Joan de Deu, Natl Reference Ctr CSUR Hereditary Red Blood Cell, Barcelona, Spain
Autonomous Univ Barcelona, Hosp Santa Creu & St Pau, Genet Dept, Barcelona, Spain
Inst Salud Carlos III, U705 Biomed Res Rare Dis CIBERER, Madrid, Spain
Rodriguez, ER:
Hosp Santa Creu & Sant Pau, Hosp St Joan de Deu, Natl Reference Ctr CSUR Hereditary Red Blood Cell, Barcelona, Spain
Autonomous Univ Barcelona, Hosp Santa Creu & St Pau, Genet Dept, Barcelona, Spain
Ferrer, MS:
Autonomous Univ Barcelona, Hosp Santa Creu & St Pau, Hematol Dept, Barcelona, Spain
Hosp Santa Creu & Sant Pau, Hosp St Joan de Deu, Natl Reference Ctr CSUR Hereditary Red Blood Cell, Barcelona, Spain
Sevilla, AFR:
Autonomous Univ Barcelona, Hosp Santa Creu & St Pau, Hematol Dept, Barcelona, Spain
Hosp Santa Creu & Sant Pau, Hosp St Joan de Deu, Natl Reference Ctr CSUR Hereditary Red Blood Cell, Barcelona, Spain
|