Beta Thalassemia X Linked

Patients have splenomegaly and petechiae moderate thrombocytopenia prolonged bleeding time due to platelet dysfunction reticulocytosis and.

Beta thalassemia x linked. Beta thalassemia may also occur along with another disorder in which there is an abnormality in the structure of hemoglobin hemoglobinopathy. If left untreated beta thalassemia can be fatal. Beta thalassemia is a hereditary disease affecting hemoglobin.

Complications may include delayed growth bone problems causing facial changes liver and gall bladder problems enlarged spleen enlarged kidneys diabetes hypothyroidism and heart problems. Normal adult hemoglobin is made of two proteins alpha and beta globin. Notice there are 22 pairs of numbered chromosomes autosomes and one.

Therefore the thalassemias are a result of quantitative mutations in the globin genes. Uniprotkb 1 reviewed 1 swiss prot. Beta thalassemia a defect in the production of beta globin protein from the beta genes is the most common cause of beta thalassemia.

Beta thalassemia is caused by genetic changes in the hbb gene that encodes beta. Beta thalassemia can also occur along with other features as part of a larger syndrome such as in x linked thrombocytopenia with thalassemia or beta thalassemia trichothiodystrophy. Below is a karyotype a picture of all of an individual s genetic information as seen through a microscope.

There have been numerous reports of thromboembolic complications associated with thalassemia many describing cerebral thrombotic events. Disease thrombocytopenia with beta thalassemia x linked map to. As with about half of all hereditary diseases an inherited mutation damages the assembly of the messenger type rna mrna that is transcribed from a chromosome dna contains both the instructions for stringing amino acids together into proteins as well as stretches of dna that play important roles in regulating produced protein.

As early as 1972 logothetis et al 6 reviewing 138 cases of β thalassemia major β tm in greece described a stroke syndrome in 2 patients and neurologic deficits compatible with transient ischemic attacks in about 20 of the cases. Beta thalassemia is an inherited blood disorder that reduces the production of hemoglobin a protein in red blood cells that carries oxygen. Male hemizygous patients display macrothrombocytopenia splenomegaly and a β thalassemia trait.