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Often there is mild to severe anemia (low red blood cells or hemoglobin) as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. [1] Symptoms include tiredness , pallor , bone problems, an enlarged spleen , jaundice , pulmonary hypertension , and dark urine. [ 1 ]
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 ...
Haemophilia (British English), or hemophilia (American English) [6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
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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.
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.
Beta thalassemias (β thalassemias) are a group of inherited blood disorders. They are forms of thalassemia caused by reduced or absent synthesis of the beta chains of hemoglobin that result in variable outcomes ranging from severe anemia to clinically asymptomatic individuals. Global annual incidence is estimated at one in 100,000. [4]
X chromosome. The factor IX gene is located on the X chromosome (Xq27.1-q27.2). It is an X-linked recessive trait, which explains why males are affected in greater numbers. [9] [10] A change in the F9 gene, which makes blood clotting factor IX (9), causes haemophilia B. [11]