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 monogenic disease. monogenic disease synonyms, monogenic disease pronunciation, monogenic disease translation, English dictionary definition of monogenic disease. Noun 1. monogenic disease - an inherited disease controlled by a single pair of gene
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. ...
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)/-α(3.7)). 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....
congenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, inherited disease, inherited disorder monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes polygenic disease, polygenic disorder - an inherited disease...
The blood disease known as sickle 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 inherit an overt...
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 ...
Blood disease - Anemias, Normocytic, Normochromic: Forms of anemia in which the average size and hemoglobin content of the red blood cells are within normal limits are called normocytic normochromic anemias. Usually microscopic examination of the red cel
Thalassemia minor results from a congenital abnormality of hemoglobin synthesis. The disorder may masquerade as mild iron deficiency anemia, but iron therapy and transfusions are often not indicated. In the myelodysplastic syndrome, blood cell components fail to mature, and the conditi...