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.
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%).