title: Acute haemolytic crisis in a Thai patient with homozygous haemoglobin Constant Spring (Hb CS/CS): a case report.
abstract: Acute haemolysis associated with mild upper respiratory tract infection was observed in a Thai boy who presented with a rapid decline in haemoglobin (Hb) levels, haemoglobinuria and evidence of intravascular haemolysis. Several possible causes giving rise to such a condition were excluded including G6PD deficiency, which is extremely common in Thailand. Subsequent haematological and molecular analyses demonstrated that the patient was homozygous for Hb Constant Spring (Hb CS/CS), an a globin haemoglobinopathy. It has been shown previously that patients with homozygous Hb CS had mild haemolytic anaemia secondary to an accumulation of alpha(CS) chains, which are toxic to red blood cell membrane cytoskeletons. Increased body temperature might induce more precipitation of this a globin variant. This report highlights the importance of Hb CS/CS as a potential predisposing cause of acute haemolysis in children that might be aggravated by acute bacterial or viral infections. This is particularly relevant for patients of Southeast Asian descent where this abnormal haemoglobin is highly prevalent.
authors.affiliation: Department of Paediatrics and Siriraj Thalassaemia Research Programme, WHO Collaborating Centre for the Control of Haemoglobinopathies, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. sivvp@mahidol.ac.th
authors.forename: Vip
authors.initials: V
authors.lastname: Viprakasit
authors.forename: Gavivann
authors.initials: G
authors.lastname: Veerakul
authors.forename: Kleebsabai
authors.initials: K
authors.lastname: Sanpakit
authors.forename: Bunchoo
authors.initials: B
authors.lastname: Pongtanakul
authors.forename: Worrawut
authors.initials: W
authors.lastname: Chinchang
authors.forename: Voravarn S
authors.initials: VS
authors.lastname: Tanphaichitr
mesh_terms: D000208:Acute Disease; D002648:Child; D005192:Family Health; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006456:Hemoglobinuria / Q000209:etiology / Q000235:genetics; D006461:Hemolysis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012141:Respiratory Tract Infections / Q000097:blood*
chemical_list: D006455:Hemoglobins, Abnormal; C035541:Hemoglobin Constant Spring