hemoglobinopathy


Also found in: Dictionary, Thesaurus, Encyclopedia, Wikipedia.
Related to hemoglobinopathy: Hemoglobin electrophoresis

hemoglobinopathy

 [he″mo-glo″bĭ-nop´ah-the]
1. any hematologic disorder due to alteration in the genetically determined molecular structure of hemoglobin, with characteristic clinical and laboratory abnormalities, resulting in conditions such as hemolytic anemia, sickle cell anemia, or thalassemia.
2. sometimes more specifically, a hemoglobin disorder in which the amino acid sequence is altered, as opposed to thalassemia, in which there is reduced or absent synthesis of one or more normal polypeptide chain(s).

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē),
A disorder or disease caused by or associated with the presence of abnormal hemoglobins in the blood, for example, sickle cell disease, hemoglobin C, D, E, H, or I disorders. Occasionally, combinations of abnormal hemoglobins are seen in hemoglobinopathies.
[hemoglobin + G. pathos, disease]

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  

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē)
A disorder or disease caused by or associated with the presence of hemoglobins in the blood.
Synonym(s): haemoglobinopathy.
[hemoglobin + G. pathos, disease]

he·mo·glo·bi·nop·a·thy

(hē'mō-glō'bi-nop'ă-thē)
A disorder or disease caused by or associated with the presence of hemoglobins in the blood.
Synonym(s): haemoglobinopathy.
[hemoglobin + G. pathos, disease]
References in periodicals archive ?
Our patient was white and Turkish and had no hemoglobinopathy.
Cousin especially first cousin marriage with a background of family history of hemoglobinopathy results in homozygous state.
Chauhan, "Spurious hemoglobin Barts caused by bilirubin: a common interference mimicking an uncommon hemoglobinopathy," The American Journal of Clinical Pathology, vol.
The study sample comprised the couples attending to the Mother and Child Health Care Center in Hatay for premarital hemoglobinopathy screening from 2004 to 2009.
The National Institutes of Health provide some guidelines as to when to suspect that a patient with diabetes has a hemoglobinopathy. (9) These include 1) when the results of the self monitoring do not correlate with the HbA1c, 2) when the HbA1c is over 15% and, 3) when an HbA1c result shows a significant change from the previous result when the laboratory method changes.
Thalassemia is a quantitative problem of too few globins synthesized, whereas sickle-cell anemia (a hemoglobinopathy) is a qualitative problem of synthesis of an incorrectly functioning globin.
He describes malarial anemia, non-malarial protozoa-induced anemia, hookworm-related anemia and other intestinal helminth-induced anemia, and anemia in bacterial infections, fungal infections, viral diseases, thalassemia, and tropical hemoglobinopathy. He also covers nutrition-related anemia, iron deficiency, tropical sprue, toxins, occupation-induced anemia, anemia in pregnant women and in infancy and in the elderly.
High-risk conditions were indicated by ICD-9 diagnoses, and included asthma or other chronic pulmonary disease, chronic cardiac disease, immunosuppressive disorders or therapy, sickle cell anemia or other hemoglobinopathy, chronic renal dysfunction, or chronic metabolic disease.
If both parents carry a hemoglobinopathy trait, there is a 25 percent chance with each pregnancy for an affected child.
High-risk conditions were indicated by ICD-9 diagnoses, and included asthma or other chronic pulmonary disease; chronic cardiac disease; immunosuppressive disorders or therapy; sickle cell anemia or other hemoglobinopathy; chronic renal dysfunction; or chronic metabolic disease.
The first patient was a 63-year-old woman with hemoglobin AEBart's disease, a complex thalassemia/ hemoglobinopathy syndrome, which required frequent blood transfusions.