Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 14-year-old girl of Vietnamese descent with an unremarkable medical history presented with haemodynamic shock due to severe anaemia. This was caused by an aplastic crisis resulting from the combined effects of a Parvovirus infection and HbH disease. The HbH disease was a result of compound heterozygosity for the South East Asia (SEA) deletion and the Constant Spring mutation in the genes coding for alpha-globin chains (HbH/Hb Bart's). The girl had multiple blood transfusions and recovered. Family investigation revealed that, in addition to these 2 mutations in the alpha-globin gene, some family members also carried the 3.7-kb deletion of the alpha-globin gene, a mutation in the beta-globin gene resulting in HbE, and a novel mutation of unknown clinical significance in the beta-globin gene. This case demonstrates that essentially asymptomatic carriership of thalassaemia can have serious consequences when coupled with a concurrent infection.
 ...
PMID:[Acute anaemia in a Vietnamese patient with alpha-thalassaemia and a parvovirus infection]. 1706 37

Hemophagocytic lymphohistiocytosis (HLH) is rare and life-threatening medical emergency. Parvovirus infection is rarely associated with HLH. We report a case of parvovirus-related HLH in a patient with alpha thalassaemia (HbH disease). The patient responded well to a course of dexamethasone without the need of etoposide. Based on our literature search, this is the first case of parvovirus related HLH in a patient with HbH disease in the medical literature.
 ...
PMID:A Case of Parvovirus-Related Haemophagocytic Lymphohistiocytosis in a Patient with HbH Disease. 3067 65