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Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous), but does not display the severe symptoms of sickle cell disease that occur in a person who has two copies of that allele (is homozygous).
Diagnosis is also possible during pregnancy. [4] The care of people with sickle cell disease may include infection prevention with vaccination and antibiotics, high fluid intake, folic acid supplementation, and pain medication.
Sickle cell disease. In persons with sickle cell disease, high levels of fetal hemoglobin as found in a newborn or as found abnormally in persons with hereditary persistence of fetal hemoglobin, the HbF causes the sickle cell disease to be less severe. In essence the HbF inhibits polymerization of HbS.
It is an X-linked recessive disorder that results in defective glucose-6-phosphate dehydrogenase enzyme. [1] Glucose-6-phosphate dehydrogenase is an enzyme which protects red blood cells, which carry oxygen from the lungs to tissues throughout the body. A defect of the enzyme results in the premature breakdown of red blood cells.
Hemoglobin E ( HbE) is an abnormal hemoglobin with a single point mutation in the β chain. At position 26 there is a change in the amino acid, from glutamic acid to lysine (E26K). Hemoglobin E is very common among people of Southeast Asian, Northeast Indian, Sri Lankan and Bangladeshi descent. [1] [2]
Sickle cell-beta thalassemia is caused by inheritance of a sickle cell allele from one parent and a beta thalassemia allele from the other. Mutations. A sickle allele is always the same mutation of the beta-globin gene (glutamic acid to valine at amino acid six). In contrast, beta-thalassemia alleles can be created by many different mutations ...
Specialty. Hematology. Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are single-gene disorders and, in most cases, they are inherited as autosomal co-dominant traits. [2]
The Kleihauer–Betke ("KB") test, Kleihauer–Betke ("KB") stain, Kleihauer test or acid elution test is a blood test used to measure the amount of fetal hemoglobin transferred from a fetus to a mother's bloodstream. [1] It is usually performed on Rh-negative mothers to determine the required dose of Rho (D) immune globulin (RhIg) to inhibit ...
Anemia can be congenital (i.e. conditions such as sickle cell anemia and thalassemia) or acquired (i.e., conditions such as iron-deficiency anemia or anemia as a result of an infection). The causes of anemia during pregnancy can be subdivided into two main categories; physiologic and non-physiologic causes.
Case reports analysed by Doctor Sayar Dror, PhD, at the Paediatric Hemato-Oncology Unit, “Dana” Children Hospital in Israel, feature three patients; a 12 month-old female of consanguineous parents, a 35 month-old female born to parents known to have the Hemoglobin O-Arab trait, and a 9 month-old male who was asymptomatic and was referred ...