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This condition is caused by the deceased liver's decreased ability to esterificate cholesterol. [61] Thalassemia: D56: D013789 Thalassaemia is an inherited blood disorder which is caused by genetic mutations that causes the body to make fewer healthy red blood cells and less hemoglobin due to lack of protein chains. Triosephosphate isomerase ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
During pregnancy, genetic testing can be done on samples taken of fetal blood, of amniotic fluid, or chorionic villus sampling. [63] [64] A routine heel prick test, in which a small sample of blood is collected a few days after birth, can detect some forms of hemoglobinopathy. [65]
Hematologic diseases are disorders which primarily affect the blood and blood-forming organs. Hematologic diseases include rare genetic disorders, anemia , HIV , sickle cell disease and complications from chemotherapy or transfusions.
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits. [2] [3]
Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35] The basic ...