[Thalassemia beta in children from Pomerania Region].
The thalassemias are inherited disorders resulting from deficient synthesis of one or more polypeptide chains of normal haemoglobin. There are two main groups of thalassemia: alpha and more common beta. The carriage of thalassemia genes are widely spread and the disease is considered the most common genetic disorder worldwide. Thalassemias are particularly prevalent in inhabitants of Italy, Greece, Spain, Mediterranean Islands, West Africa and some parts of Asia. The most common thalassemia beta cases are characterized from asymptomatic to severe microcytic anaemia with hepatosplenomegaly and physical development disturbances. The authors present eight unrelated children from the Pomerania Region of Poland complaining of chronic microcytic anaemia with normal iron level. Elevated level of haemoglobin A2 and in some of them haemoglobin F revealed thalassemia beta.
Kaczorowska-Hać
Barbara
B
Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii, Akademia Medyczna, ul. Debinki 7, 80-211 Gdańsk, Poland. bakaczor@wp.pl
Balcerska
Anna
A
Zdebska
Ewa
E
Wlazłowski
Marek
M
D000293:Adolescent; D000740:Anemia / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D006443:Hemoglobin A2 / Q000032:analysis; D006801:Humans; D007223:Infant; D008297:Male; D017086:beta-Thalassemia / Q000097:blood* / Q000150:complications / Q000175:diagnosis*
D006443:Hemoglobin A2; D005319:Fetal Hemoglobin