Abnormal Hemoglobin

Genetic Disorder-Thalassemia

Thalassemia is a hereditary disease. It is a blood disease autosomal recessive. Autosomal recessive model means both copies of the gene in each cell mutations. Thalassemia is also known as Mediterranean anemia, Jaksch anemia or Cooley's anemia. This is not a single disorder but a group of defects with the same clinical effects. A group of hereditary anemia in which there is a defect in the alpha or beta chains of hemoglobin. Anemia is assigned to the alpha chains known as alpha thalassemia and anemia assigned to beta chains are called beta chains. Thalassemia major is to describe homozygous and heterozygous thalassemia minor. Results default to the reduced rate of synthesis of one globin chain hemoglobin makeup. This causes the formation of abnormal hemoglobin molecules, which causes anemia, a characteristic symptom of thalassemia. Thalassemia includes different types of anemia. The severity depends on the number of genes affected. In this disorder the patient is unable to produce red blood cells and the reduction must be supplemented by the transfusion of red blood cells every 2-3 weeks to make healthy choices and patient survival.

Alpha thalassemia

It is caused by decreased production of alpha globin chains due to a gene mutation in the hemoglobin molecule. The number of chromosomes in each sixteenth two alpha globin chains may be seen forming a total of four. In fetal hemoglobin which is made before birth and in hemoglobin A2 and hemoglobin that is present after birth, the alpha chain is an important element. Alpha thalassemia in a parent can be identified most often after the birth of a child effectively. The most severe form of alpha thalassemia causes still birth. There are four types of thalassemia.
carrier or the carrier Alpha thalassemia silent: the carrier is carrying the genes, but show no symptoms and no need of treatment for carriers. In carriers of two alpha chain genes are deleted by both say the same chromosome number 16 are removed known
'Deleting Cis and one for each of the 16 chromosomes are deleted number called "suppression Trans. If parents are carriers of "suppression of the CIS, there is a 25 percent chance of having a baby with alpha thalassemia major in each pregnancy. It is only by DNA testing, carriers of both deletions can be distinguished.
Hemoglobin H disease: This occurs when a person has one gene for the alpha chain operation, causing hemolytic anemia, which means three alpha chain genes are deleted. People with this disorder are at risk of having a child of alpha-thalassemia major in the realization of a chromosome number sixteen of the abolition of the CIS.
Alpha thalassemia major: This condition results in the death of the fetus in the uterus because all four alpha chain genes are deleted here.
Hemoglobin H-Constant Spring: It is more acute than the disease of hemoglobin H. The broken patients often suffer from anemia and the enlargement of the spleen and other viral infections.
alpha thalassemia is commonly found in countries like Africa, Middle East, India, Southeast Asia and southern China and in the Mediterranean region. The carriers of this disease can be determined by the following tests:
(A change) complete blood count (CBC): This is the measure of the size, number and maturity of different cells in a given volume of blood.
(B) Hemoglobin electrophoresis with A2 and F quantitation: This is a lab procedure that differentiates the types of hemoglobin present in the blood.
(C) FEP (free erythrocyte protoporphyrin) and ferritin: To exclude iron deficiency anemia.
These tests can be performed from a single blood sample. Prenatal (before birth) may make the diagnosis by taking samples of chorionic villi.
Treatment of alpha thalassemia.