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Related to hemoglobinopathy: Hemoglobin electrophoresis
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Noun1.hemoglobinopathy - a blood disease characterized by the presence of abnormal hemoglobins in the blood
blood disease, blood disorder - a disease or disorder of the blood
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References in periodicals archive ?
Hereditary persistence of fetal hemoglobin (HbF) and acquired conditions like methemoglobinemia are alternative forms of hemoglobinopathy. (1) HbS is caused by a single missense variation in the beta-globin gene leading to a glutamic-to-valine substitution at the sixth residue of beta-globin polypeptide.
The patient was a 35 year-old pregnant Vietnamese female who was being screened for hemoglobinopathy. Laboratory findings are shown in Table 2.
All healthy control samples were collected from staff; colleagues of KKUH and King Saud University, KSA; and Hemoglobinopathy Diagnosis Center of Mediterranean Blood Diseases Foundation, Antalya, Turkey.
- US-based genetic medicines company Homology Medicines, Inc has entered into a research and development collaboration with Swiss pharmaceutical company Novartis to use Homology's proprietary gene editing technology to develop new treatments for select ophthalmic targets and a hemoglobinopathy disease, the company said.
ACOG recommends high-risk hemoglobinopathy pregnancy screening for ethnic groups with African, Southeast Asian, and Mediterranean ancestry (1).
The study is from Northeastern Thailand where the prevalence of thalassemia and hemoglobinopathy is extremely high.
More than five million children born each year around the world are carriers of a form of severe hemoglobinopathy, mainly thalassaemia and sickle cell anaemia, of which a large percentage die before the age of 15 due to lack of proper treatment.
Although hemoglobinopathy is very common, RMC is very rare.
Laboratory studies were significant for a normocytic, hypochromic anemia (hemoglobin 7.4g/dL on admission) with the presence of target cells on red blood cell morphology suggesting a hemoglobinopathy such as beta thalassemia or alpha thalassemia.
Beta-thalassemia is an inherited hemoglobinopathy caused by beta-globin gene mutations that impair the production of one or both beta-globin chains.
This study reported that [beta]-thalassemia minor was the most common form of hemoglobinopathy (67.9%), followed by [beta]-thalassemia major (26.1%).