Pyruvate kinase deficiency in an alpha-thalassemia family: first case report in Thailand.
In Thailand, the most common cause of chronic hemolytic anemia is thalassemia hemoglobinopathy. We report here a 10-year-old girl with pyruvate kinase (PK) deficiency who was initially diagnosed to have Hb H disease, like her sister. The patient had a history of neonatal jaundice which required blood exchange transfusion twice and phototherapy. She became anemic and regular blood transfusion was required since the age of 2 1/2 months. She was very anemic compared to her sister and was transfusion dependent. Besides, she never had red cell inclusion bodies, thus re-evaluation was performed. The diagnosis of red cell pyruvate kinase deficiency and the exclusion of Hb H disease was achieved after cessation of blood transfusion for 3 months. The family study also confirmed the diagnosis. The patient is now on high transfusion and iron chelation. She is doing well with mild splenomegaly.
Tanphaichitr
V S
VS
Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Suvatte
V
V
Mahasandana
C
C
Veerakul
G
G
Pung-amritt
P
P
Tachavanich
K
K
Ideguchi
H
H
D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D005190:Family; D005260:Female; D006801:Humans; D011770:Pyruvate Kinase / Q000187:drug effects*; D013785:Thailand / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000453:epidemiology*
D011770:Pyruvate Kinase