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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 ]
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.
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]
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 ...
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About seven per 100,000 people are affected by MDS; about four per 100,000 people newly acquire the condition each year. [4] The typical age of onset is 70 years. [ 4 ] The prognosis depends on the type of cells affected, the number of blasts in the bone marrow or blood, and the changes present in the chromosomes of the affected cells. [ 3 ]
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]
Genetic counselling is the process by which people with a hereditary disorder are advised of the probability of transmitting it and the ways in which this may be prevented or ameliorated. [ 86 ] People who are known carriers of the disease or at risk of having a child with sickle cell anemia may undergo genetic counseling .