Interaction of hereditary spherocytosis and alpha thalassaemia: a family study. 1994

C K Li, and M H Ng, and K L Cheung, and T K Lam, and M M Shing
Department of Paediatrics, Prince of Wales Hospital, Chinese University of Hong Kong.

We report here a family of patients with coexistent hereditary spherocytosis and alpha-thalassaemia. The different clinical presentations of the family members were affected by the severity of the alpha-thalassaemia. The haemolytic effect of hereditary spherocytosis was modulated by the increased osmotic resistance of thalassaemia in the patients with both disorders. Coexistence of haemoglobin H disease and hereditary spherocytosis resulted in an asymptomatic state. In contrast, coexistence of alpha-thalassaemia trait and hereditary spherocytosis was still haemolytic. The different shapes of the osmotic curves in the family members correlated with the severity of their symptoms.

UI MeSH Term Description Entries
D009996 Osmotic Fragility RED BLOOD CELL sensitivity to change in OSMOTIC PRESSURE. When exposed to a hypotonic concentration of sodium in a solution, red cells take in more water, swell until the capacity of the cell membrane is exceeded, and burst. Saline Fragility,Fragility, Osmotic,Fragility, Saline
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002681 China A country spanning from central Asia to the Pacific Ocean. Inner Mongolia,Manchuria,People's Republic of China,Sinkiang,Mainland China
D004909 Erythrocyte Indices ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC). Erythrocyte Hemoglobin, Mean Cell,Erythrocyte Size Determination,Erythrocyte Volume, Mean Cell,Hemoglobin, Erythrocyte, Mean Cell,Mean Corpuscular Volume,Red Cell Indices,Erythrocyte Diameter,Erythrocyte Index,Erythrocyte Indexes,Erythrocyte Thickness,Mean Cell Hemoglobin Concentration,Mean Cell Volume,Mean Corpuscular Hemoglobin,Mean Corpuscular Hemoglobulin Concentration,Red Cell Distribution Width,Red Cell Index,Red Cell Indexes,Cell Volumes, Mean,Corpuscular Volumes, Mean,Determination, Erythrocyte Size,Determinations, Erythrocyte Size,Diameter, Erythrocyte,Diameters, Erythrocyte,Erythrocyte Diameters,Erythrocyte Size Determinations,Hemoglobin, Mean Corpuscular,Hemoglobins, Mean Corpuscular,Index, Erythrocyte,Index, Red Cell,Indexes, Erythrocyte,Indexes, Red Cell,Indices, Erythrocyte,Indices, Red Cell,Mean Cell Volumes,Mean Corpuscular Hemoglobins,Mean Corpuscular Volumes,Size Determination, Erythrocyte,Size Determinations, Erythrocyte,Thickness, Erythrocyte,Volume, Mean Cell,Volume, Mean Corpuscular,Volumes, Mean Cell,Volumes, Mean Corpuscular
D005260 Female Females
D006461 Hemolysis The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity. Haemolysis,Extravascular Hemolysis,Intravascular Hemolysis,Extravascular Hemolyses,Haemolyses,Hemolyses, Extravascular,Hemolyses, Intravascular,Hemolysis, Extravascular,Hemolysis, Intravascular,Intravascular Hemolyses
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013103 Spherocytosis, Hereditary A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions. Hereditary Spherocytoses,Spherocytoses, Hereditary
D017085 alpha-Thalassemia A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. Hemoglobin H Disease,Thalassemia-alpha,A-Thalassemia,Alpha Thalassemia,Disease, Hemoglobin H,Thalassemia alpha,Thalassemia, Alpha,alpha-Thalassemias

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