Genetic Disorder- Thalassemia
Thalassemia is a hereditary illness. It is an autosomal recessive blood disease. Autosomal recessive pattern means both copies of the gene in every cell have mutations. Thalassemia is also recognized as Mediterranean anemia, Jaksch anemia or Cooley’s anemia. This is not a single disorder but a group of defects with comparable clinical effects. A group of inherited anemia, in which there is a defect in alpha or beta chains of hemoglobin. The anemia affected to the alpha chains is known as alpha thalassemia and the anemia affected to the beta chains are referred to as beta chains. Thalassemia main is to describe homozygote and Thalassemia minor to heterozygote. The defect outcomes in reduced rate of synthesis of 1 of the globin chain that makeup hemoglobin. This causes the formation of abnormal hemoglobin molecules which causes anemia, a characteristic symptom of thalassemias. Thalassemia consists of diverse varieties of anemia. The severity depends up on the number of genes it affected. In this disorder the patient is unable to generate red blood cells and the reduction has to be supplemented with the transfusion of red blood cells, every single 2-3 weeks to make patient healthy and to survive.
Alpha Thalassemia
It is caused by a decrease in the production of alpha globin chains due to mutation of the genes in the hemoglobin molecule. On each number sixteenth chromosome there two alpha globin chains can be observed forming a total number of four. In fetal hemoglobin which is produced just before birth and in hemoglobin A and hemoglobin A2 which is present following birth, the alpha chain is an critical component. Alpha thalassemia in a parent can be identified mostly after the birth of an powerful child. The most severe form of alpha thalassemia causes still birth. There are four kinds of thalassemia.
Alpha thalassemia carrier or silent carrier: Carrier is carrying the genes but does not have symptoms and there is no need of treatment for carriers. In carriers two alpha chain genes are deleted i.e. both from the identical number 16 chromosome are deleted known as
‘Cis deletion’ and one each and every from the number 16 chromosomes are deleted identified as ‘trans deletion’. If the parents are the carriers of ‘cis deletion’, there are 25 percent of chances of having a baby with alpha thalassemia key with each and every pregnancy. Only by DNA analysis, the carriers of both deletions can be distinguished.
Hemoglobin H disease: This occurs when a individual has only 1 functioning alpha chain gene, resulting in hemolytic anemia which means 3 alpha chain genes are deleted. Persons with this disorder are at a risk to have a child of alpha thalassemia significant as they carry 1 number sixteen chromosome with cis deletion.
Alpha thalassemic significant: This condition results in the death of the fetus in the uterus due to the fact all the four alpha chain genes are deleted here.
Hemoglobin H-constant spring: This far more acute than the hemoglobin H disease. Patients have severed anemia and frequently suffer from the enlargement of spleen and other viral infections.
Alpha thalassemia is generally found in countries like Africa, Middle East, India, South East Asia, and Southern China and in Mediterranean region. Carriers of this disease can be determined by the following tests:
(a)Total blood alter (CBC): This is the measurement of size, number and maturity of distinct cells in a distinct volume of blood.
(b)Hemoglobin electrophoresis with A2 and F quantition: This is a lab process that differentiates the kinds of hemoglobin present in the blood.
(c)FEP (No cost Erythrocyte protoporphyrin) and Ferritin: This is to exclude iron deficiency anemia.
These tests can be performed from a single blood sample. Prenatal (before birth) diagnosis can perform by taking sample from chorionic villus.
Treatment of alpha thalassemia depends on numerous aspects. They are:
(a)Child’s age, health and medical history.
(b)Seriousness of the illness.
(c)Tolerance of the child for certain medications, procedures and therapies.
(d)Expectation for the course of the disease.
(e)Opinion or preference from the side of the family about the treatment.
Treatment consists of daily doses of folic acid, blood transfusion, removal of spleen
Beta Thalassemia
Beta thalassemia is caused by the mutation in beta globin chains. Chromosome number 11 controls the beta protein. Two genes are required to make beta globin protein chain. If one or both genes are mutated, the individual will have beta thalassemia. If both are mutated, the condition is either beta thalassemia intermedia or beta thalassemia key. Intermedia cause moderate anemia and the key trigger the severe anemia.
Beta thalassemia minor or carrier or trait: The person will be a carrier when 1 mutated gene is inherited and do not show any symptoms.
Beta thalassemia intermedia: This is a condition between carrier and key. These patients have hemoglobin of 7-9g/dl. The patients will need blood transfusion, when their hemoglobin drops due to infection and stress on the body especially in the course of pregnancy and leg ulcer.
Beta thalassemia main: In this condition children are regular at the time of birth but develop anemia during the initial year of life. Growth failure, deformities, enlarged spleen and liver are some of the difficulties. This condition requires intensive medical care which consists of 2-3 weekly transfusions, desferrioxamine injections for 8-12 hours at house. Transfusions can decrease the disease but the iron content improve due to transfusion may possibly cause harm to heart, liver and endocrine systems. Associated diseases are diabetes, growth and puberty failure, early menopause and transfusion complications such as Hepatitis C, B and HIV.
For determining this disease basic blood test known as hemoglobin Electrophoresis or hemoglobin A2 to recognize, if it a carrier or not.
During pregnancy there are 3 ways to test the fetus:
(a)CVS- throughout 8-10 months of pregnancy.
(b)Amniocentesis- in the course of 14-18 weeks of pregnancy.
(c)Fetal blood testing- Blood is taken from the umbilical cord of the fetus in the course of 18-20 weeks of pregnancy.
First and third tests have a reported miscarriage rate of 1 out of 100 tests and second test 1 in 200.
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