Sickle cell disease is an inherited genetic abnormality of hemoglobin (the oxygen-carrying protein found in red blood cells) characterized by sickle (crescent)-shaped red blood cells and chronic anemia caused by excessive destruction of the abnormal red blood cells. ...
Define hereditary disease. hereditary disease synonyms, hereditary disease pronunciation, hereditary disease translation, English dictionary definition of hereditary disease. n. See genetic disorder. American Heritage® Dictionary of the English Langua
Hemoglobin Portland, which was first characterized in an infant with a chromosome abnormality, is a third normal embryonic hemoglobin. The predominant hemoglobin from the eighth week to term is fetal hemoglobin, Hb F, and is composed of α2γ2. There are two distinct γ chains, one with ...
The patient was found to have HbH disease with a heterozygous genetic abnormality (--FIL/-α3.7). Recently, the number of marriages of Japanese to natives of areas where thalassemia is epidemic has increased. Therefore, the incidence of HbH disease can be expected to increase in Japan. Long...
certain situations. Theblood diseaseknown assickle cell anemia, for example, results from a hereditary abnormality in the production of the red oxygen-carrying pigment (hemoglobin) of the red cells of the blood. The child of a mother and father who both have sickle cell anemia will probably ...
(diabetes insipidus). Excessive salivation and grinding of teeth may be caused by an abnormality in the mouth. Coughing is associated with pneumonia. Some diseases cause postural changes: for example, a horse with tetanus may stand in a stiff manner. An abnormalgaitin an animal made to move ...
Hemoglobin disorder, Hemoglobinopathy, Hydroxyurea, Migrants, Sickle cell screening, Sickle cell disease, Transfusion, Vaso-occlusion crisisSickle cell disease (SCD) is an inherited red blood cell disorder caused by a structural abnormality of hemoglobin called sickle hemoglobin (HbS). Clinical ...
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globi... We have identified five unrelated patients, all of north European origin, who have hemoglobin H (Hb H) disease and profound mental handicap....
Among these, 120 (6%) had no abnormality detected by FISH with the probes used. Table 1 shows the prevalence of primary cytogenetic abnormalities with the corresponding number of patients who had testing for each probe. An IgH translocation was identified in 46%, and trisomies were found in ...
Thirteen (93%) of 14 biopsy specimens showed some histological abnormality, however, with only 1 graded as Roenigk grade II. In addition, higher weekly doses of MTX (≥20 mg/m2/wk) were not associated with significant hepatic fibrosis in 10 patients who underwent liver biopsy.216 Although ...