Pyruvate kinase deficiency in an alpha-thalassemia family: first case report in Thailand.
Southeast Asian J Trop Med Public Health
;
1997 ; 28 Suppl 3(): 64-8
Artigo
em Inglês
| IMSEAR
| ID: sea-33814
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Piruvato Quinase
/
Tailândia
/
Feminino
/
Humanos
/
Família
/
Criança
/
Talassemia alfa
/
Eritrócitos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
1997
Tipo de documento:
Artigo
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