22/09/2022
THALASSEMIA-is a form of inherited autosomal recessive blood disorders characterized by abnormal formation of haemoglobin. The abnormal haemoglobin formed results in improper oxygen transport and destruction of RBCS.people with thalassemia make less haemoglobin and have fewer circulating RBCS than normal, which results in mild or severe anaemia.thalassemia will be presents as microcytic anaemia.
SIGNS & SYMPTOMS- 1)Iron overload
2) infection
3)bone deformities
4)enlarged spleen
5)slowed growth rates
6)heart problems
CAUSE-Both alpha & beta thalassemia are often inherited autosomal recessive manner. case of dominantly inherited alpha & beta thalassemias have been reported, the first of which was in an iris family with two deletions of 4 and 11bp in exon 3 interrupted by an iseration of 5bp in the beta globulin chain.
TYPES- Mainly three types...
1) alpha thalassemia- the alpha thalassemias involve the genes HbA1 & HBA2, inherited in a medelian recessive fashion. Two gene loci and so four alleles exist. It is also connected to the deletion of 16p chromosome. Alpha thalassemia results in decreased alpha globulin chains are produced, resulting in an excess of beta chain in adults and excess delta chains in new borns.
2)beta thalassemia- beta thalassemia are due to mutations in the HBB gene on chromosome 11, also inherited in an autosomal recessive fashion. The severity of the disease depends on the nature of mutation. mutations are characterized as either beta0 or beta thalassemia major if they prevent any formation of beta chains, the most severe form of beta thalassemia as either Beta+ or beta thalassemia minor if only one of the two beta globulin alleles contains in mutation, so that beta chain production is not terrible compromised and patient may be relative asymptomatic.
3)Delta thalassemia-as well as alpha and beta thalassemia chain present in haemoglobin. about 3% of adult haemoglobin is made of alpha and delta chains, just as with beta thalassemia, mutations that affect the ability of this gene to produce delta chains occur.
HOW THALASSEMIA DIAGNOSED- a doctor who is trying to diagnose thalassemia will typically take a blood sample. It will be tested for anaemia and for abnormal haemoglobin. A lob technologist will also look at the blood cells appear mishappen. abnormaly shaped red blood cells are a symptom of thalassemia. another test may be performed called hb electrophoresis. This test separates out the different molecules in the red blood cells, allowing the abnormal type to be identified.
HOW THALASSEMIA TREATED- in general treatments you may receive include....
- Blood transfusions
- Bone marrow transplant
- Medications and supplements
-Possible surgery to remove the spleen or gall bladder.
General features.....
- A physical exam may reveal a swallowen(enlarged) spleen.
- A blood sample will be taken and sent to a lab for examination.
-RBCS will appear small and abnormaly shaped when looked at under a mocroscope.
-A complete blood counts reveals anaemia.
A test called hb electrophoresis shows the presence of abnormal form of hb.
NOTE- a test called mutational analysis can help detect alpha thalassemia that cannot be seen in hb electrophoresis.
