hemoglobinopathy (redirected from haemoglobinopathy)

hemoglobinopathy /he·mo·glo·bin·op·a·thy/ (-op´ah-the)

1. a hematologic disorder due to alteration in the genetically determined molecular structure of hemoglobin, such as sickle cell anemia, hemolytic anemia, or thalassemia.

2. sometimes more specifically, a hemoglobin disorder due to alterations in a globin chain, as opposed to the reduced or absent synthesis of normal chains in thalassemia.

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he·mo·glo·bi·nop·a·thy (hm-glb-np-th)

n.

A disorder caused by or associated with the presence of abnormal hemoglobins in the blood.

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hemoglobinopathy

(hē´mōglō´bin-op´thē),
n a group of genetically determined diseases involving abnormal hemoglobin (e.g., sickle cell disease, in which hemoglobin S occurs, and hemoglobin C disease).

hemoglobinopathy, paroxysmal nocturnal,

n an acquired hemolytic anemia of unknown cause characterized by increased hemolysis during sleep, resulting in the presence of hemoglobin in the urine on awakening.

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hemoglobinopathy

any hematological disorder due to alteration in the genetically determined molecular structure of hemoglobin, with characteristic clinical and laboratory abnormalities and often overt anemia. There are many such diseases in humans but none have yet been identified in animals.

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hemoglobinopathy Hematology A defect in either α or β hemoglobin, which may be quantitative or qualitative, congenital or–rarely —acquired; while the more common Hb defects–eg, HbS, HbC and thalassemias, cause a characteristic clinical picture, 'rare hemoglobin variants are variously ignored, misunderstood, misdiagnosed, feared, shunned or rejected.' and are not accompanied by clinical disease. See Hemoglobin C disease, Hemoglobin SC disease, Sickle cell anemia, Thalassemia.

Hemoglobinopathies–Major Biochemical Forms

Sickle Cell Hgb S

Sickle/C disease Hgb S, Hgb C

Hemoglobin C Disease Hgb C

Thalassemia major Hgb F

Thalassemia minor Hgb A2

Clinical presentations of hemoglobinopathy

Sickling phenotype, eg HbS, HbSC, HbS-Thalassemia

Thalassemic phenotype, eg Constant Spring, HbE, Lepore, Kenya, Vicksburg, Indianapolis

↑ oxygen affinity phenotype, eg Bristol, Bucuresti/Louisville, Caribbean, Etobicoke, Hammersmith, Moscva, Okaloosa, Peterborough, Seattle, Torino

↓ oxygen affinity phenotype, eg Altdorf, Istanbul, Baylor, Belfast, Boras, Buenos Aires, Cranston, Duarte, Djelfa, Freiburg, Geneva, Hopkins II, Koln, Lyon, Niteroi, Nottingham, Pasadena, Sabine, Santa Ana, St Louis, Shepherds Bush, Tak, Tours, Toyoake, Tübingen, Zürich