What Is Thalassemia ? Thalassemia And Pregnency



Many Diseases are caused by abnormalities in the blood.These abnormalities are Categorised according to b part of the blood affected. There are diseases of the rell blood cells, white blood cells or coagulation diseases. It is also known as “Cooleys Anaemia” is an abnormal which is caused by abnormal gene. A person with Thalassemia is unable to produce normal functioning haemoglobin in the blood. Haemoglobin is the oxygen-carrying component of the red blood cells. It consists of two different proteins, an alpha and a beta. If the body doesn’t produce enough of either of these two proteins, the red blood cell do not form properly and cannot carry sufficient oxygen. The result is anemia that begins in early childhood and lasts throughout life. Since thalassemia is not a single disorder but a group of related disorders that affect the human body in similar ways, it is important to understand the differences between the various types of thalassemia.

In severe form of It (known as Thalassemia Major),the person will require a lifetime monthly blood transfusions. This is a painful and traumatic treatment regime that imposes an enormous financial and emotional strain on the patient, and also on his or her family.thalassemia



It’s minor is consider an common condition around the world. A person with Thalassemia is unable to produce normal functioning haemoglobin in the blood.

However, It’s minor patients normally live a normal life like anyone else. Although some patients are advise to have a higher iron content in their daily diet and also other supplements like folic acid. Fortunately It’s minor do not require any blood transfusion, in order to survive.


It’s intermedia is a condition that is more severe than It’s minor but less severe than It’s major. The different between It’s intermedia and It’s major is that It’s intermedia patients require lesser amount of blood or longer duration time between each blood transfusion section.

It’s intermedia is more difficult to prevent and diagnose by screening before birth. As most It’s intermedia patients only began to have symptoms few years after their birth.

It’s intermedia might lead to bone and other problem in some patients. There is nothing to be done to prevent it, but parents need to know there are some risk if parents themself have the same medical condition. Make sure to bring your children to the doctor, if you realise they have any sign or symptoms of the condition.


Thalassemia major is the most severe form of It. A person with It’s major will require a lifetime of monthly blood transfusions. Patients usually have sign & symptoms and get diagnose within few months or early years of life.

Some Thalassemia intermedia patients might become It;s major after needing to require more offen regular blood transfusions.The only cure currently for most It’s major is bone marrow Transplant (BMT), but it require a matched donor and is best to be done during early childhood.

However the life span of It’s major had been extended with proper chelater and treatment for patients.

Thalassemia And Pregnancy

It;s – hypo chromic microcrystal anemia with inherited abnormalities of genes globins. It is common in Mediterranean countries, Middle East and South Asia.

Types. A-Thalassaemia caused by a defect in the synthesis of a-globin chains. Prevalent in Asian countries. For a definitive diagnosis is necessary to undertake a detailed and in-depth network analysis, but. Newborn electrophoresis cord blood Hb Bart finds. Contents NbA2 and HbF is usually not increased. Division of four genes. Failure to produce a single a-globin chain leads to an excess of globin chains in-forming tetramers Hb called Hb Bart’s. Hb Bart’s has a strong affinity to oxygen, which prevents the tissue respiration – develop severe anemia, heart failure, hepatic-and splenomegaly, generalized edema, and fetal death occurs as a result of edema of the fetus.Thalassemia And Pregnency

Deletion of three genes (NbN disease, hemoglobinopathies H). Despite the presence of severe anemia and elevated levels of Hb Bart’s, formed a sufficient quantity for the development of the fetus and-globin. Throughout the life of the patient remains anemic, ranging from mild to severe. In the postnatal period dominated NbN.

Deletion of two genes (it minor). Moderate hypo chromic microcrystal anemia. Sometimes a small thalassemia misdiagnosed as IDA.

Deletion of one gene (healthy carrier state). Characterized by normal peripheral blood picture, including the normal concentration of Hb, Ht and erythrocyte count. Abnormalities detected by quantitative measurement of the globin chains and the analysis of the genome. The carrier can move exacerbation NbN or small thalassemia.

B-Thalassemia (more than 90% of it) is caused by abnormal gene expression of B-globin chain. Since the genome of the two alleles in the B-globin, there are two different forms of B-thalassemia.

Homozygous B-thalassemia (major, Cooley’s anemia), serious illness, which manifests itself in childhood and ends lethal to 20 years, patients usually transfusion dependence. Clinically manifest growth retardation, minor jaundice, hyperplasia of bone marrow and bone deformities. Contents NbA2 reduced or increased, HbF – significantly improved.

Heterozygous B-thalassemia (minor) – usually mild anemia, patients do not depend on transfusions. Minor thalassemia is common in Italy and Greece. In the lowland areas of Azerbaijan, it suffers from 7-11% of the population. Contents NbA2 increased, HbF is normal or slightly elevated. Genetic aspects of a-thalassemia (* 141800, 16R, defects in genes NVAS, NVA1, NVA2, HbHR, R) B-thalassemia (* 141 900, 11r15.5, R).

Pathogenesis of excess unpaired globin chains induces the formation of insoluble tetramers, absorbed on the membranes of red blood cells and damaging them. Elytroid cells become susceptible to destruction by phagocytes of bone marrow (hence the defective erythropoietin) or the spleen and liver Note the relative deficiency of folic acid.

The clinical picture. Hypo chromic anemia secondary hemochromatosis due to unjustified use of iron supplements and frequent blood transfusions Hemolytic jaundice, cholelithiasis and splenomegaly defeat of joints in It’s major – arthritis ankles, may develop secondary gouty arthritis, aseptic necrosis of bone are uncommon when low thalassemia – short bouts of synovitis of large joints without fever, extra-articular symptoms and without the development of deformities.


Thalassemia and pregnancy, together is characterized with hemoglobin disorders. Diseases in this group are characterized by a quantitative synthesis of a breach-or p-chains of the hemoglobin molecule and may differ significantly from each other by gravity flow. For p-thalassemia is reduced (or no), the synthesis of p-globin chain. With a reduced synthesis of-thalassemia and-chain. The structure of a-and p-globin chains in it is not broken.

Treatment. When a-thalassemia is prescribed folic acid. In severe forms of a-thalassemia may require transfusion of packed red blood cells. Because microcrystal hypo chromic anemia can also be associated with iron deficiency, exploring the levels of iron and serum ferritin.

Prognosis. Carriers of a-thalassemia pregnancies without complications. For a-It can be anemia. Hemoglobin may be accompanied by severe anemia, often requiring red blood cell transfusions.

Prenatal diagnosis of it can detect the early stages of hemoglobin disorders in the fetus, and in severe cases – to put the issue of abortion. Prenatal diagnosis includes medical and genetic counseling of spouses and geno-typing of fetal cells in early pregnancy. To investigate the use of fetal blood (obtained by cordocentesis or at phetoskopic after 19 to 20 weeks of gestation), fetal cells (obtained by amniocentesis in the beginning of the II trimester of pregnancy) and chorionic tissue (obtained by aspiration biopsy on the 10-12th week of pregnancy.)

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