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THALASSEMIA]
The DNA plays an important

INTRODUCTION

role in the basis of heredity that various nucleic acid is used. Thalassemias are inherited blood disorder it means that it is passed from one parent to children through genes. Thalassemia is derived from the Greek word for sea because it was discovered origins with people near the Mediterranean Sea. Thalassemia are group of hereditary anemias characterized by hypochromia where there is an abnormal decrease in the hemoglobin content of erythrocyte, and an extreme microcytosis where in cells are smaller than normal erythrocyte, there is also destruction of blood elements like hemolysis and variable degrees of anemia. In thalassemia, it is classified into two groups according to which hemoglobin chain is diminished whether it is alpha or beta. The alpha thalassemia is the one related to the disease where chromosome 11 is affected.

SYMPTOMS

Some babies show signs and symptoms

of thalassemia at birth, while others may develop signs or symptoms during the first two years of life. Some people who have only one affected hemoglobin gene don't experience any thalassemia symptoms. A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. The lack of oxygen occurs because the body doesn't make enough healthy red blood cells and hemoglobin. The severity of symptoms depends on the severity of the disorder. If you inherit one mutated gene, youll have no signs or symptoms of thalassemia but you're a carrier of the disease and can pass it on to your children. If two mutated gene, your thalassemia signs and

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symptoms will be mild this condition may be called alpha-thalassemia minor, or you may be told you have an alpha-thalassemia trait. If you inherited three mutated genes, your signs and symptoms will be moderate to severe; this condition is also called hemoglobin H disease. And if four genes is mutated, the condition is called alpha-thalassemia major or hydrops fetalis and it usually causes a fetus to die before delivery or a newborn to die shortly after birth. Signs and symptoms of thalassemia includes fatigue, weakness shortness of breath, pale appearance, irritability, yellow discoloration of skin (jaundice), facial bone deformities, slow growth and delayed puberty, abdominal swelling, and also have dark urine where there is a sign that red blood cells are breaking down).In alpha thalassemia, carriers generally do not have signs or symptoms of the disorder and the lack of alpha globin chain is just minor that the body's hemoglobin works normally. In people who have alpha or beta thalassemia can have a mild anemia, because the alpha thalassemia trait is mistaken as iron deficiency anemia.

GENETIC FACTORS

The gene is located from base pair 5,246,695 to base pair 5,248,300 on chromosome 11.Thalassemia is caused by mutations in the DNA of cell that make hemoglobin. The mutations that cause thalassemia disrupt the normal production of hemoglobin and cause low hemoglobin levels and a high rate of red blood cell destruction, causing anemia. The type of

thalassemia you can have depends on the number of gene mutations you inherit from your parents and which part of the hemoglobin molecule is affected by the mutations. The more mutated genes, the more severe your thalassemia. Hemoglobin molecules are made of alpha and beta parts that can be affected by mutations. Alpha or beta thalassemias are referred to as major or minor, depending on how many of the genes that control alpha and beta chain synthesis are defective and whether the defects are inherited homozygous form or heterozygous form. Thalassemias are associated with defective synthesis of the hemoglobin chains, when the production of one or more globulin chains within the hemoglobin molecule Prepared by: JIMENEZ, VLADIANNE P. Page 2

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is reduced. And when this occurs, the imbalance in the configuration of hemoglobin causes it to precipitate in the erythroid precursors or the erythrocytes themselves. This causes rigidity and destruction of cells.

EPIDEMIOLOGY

The alpha-thalassemia occur mainly in people from Asia and the

Middle East, and beta thalassemias as most prevalent in people from Mediterranean regions but also occur in those from the middle east or Asia. Thalassemias affect males and females. The disorders occur most often among people of Italian, Greek, Southern Asian, and African descent. Severe forms usually are diagnosed in early childhood and are lifelong conditions. It is said that Maldives has the highest incidence of thalassemia in the world with a carrier rate of 18% of the population. In people from Cyprus The estimated prevalence is 16%, in Thailand is 1%, and in populations from Bangladesh is 3-8% and also in China, India, Malaysia and Pakistan is 3-8%. In descendants of people from Latin America and Mediterranean countries such as Greece, Italy, Portugal, Spain, and others also have prevalence. It has been reported from people in Northern Europe (0.1%) and Africa (0.9%) with a very low prevalence, and Prepared by: JIMENEZ, VLADIANNE P. Page 3

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with those in North Africa having the highest prevalence. Ancient Egyptians suffered from Thalassemia with as many as 40% of studied predynastic and dynastic mummies with the genetic defect. Today, it is particularly common in populations of indigenous ethnic minorities of Upper Egypt such as the Beja, Hadendoa, Saiddi and also peoples of the Delta, Red Sea Hill Region and especially amongst the Siwans.

DIAGNOSTIC PROCEDURES
Evaluation of thalassemia is based on familial disease history, clinical manifestations and blood test. Doctors diagnose thalassemia using blood test that icludes complete blood count and hematology test. CBC measures the amount of hemoglobin and also the different kinds of blood cells such as red blood cells. In a sample of patients with thalassemia they have fewer healthy red blood cells with less hemoglobin in their blood. They may also have red blood cells that are smaller than normal if people have thalassemia trait. In hematology tests it measure the types of hemoglobin in a blood sample. In the blood test it measures the amount of iron and hemiglobin present in blood. And through performing DNA analysis it determines whether a person is carrying mutated hemoglobin genes. So in the blood test it reveals red blood cells which are lower and smaller than usual, and it also reveals a pale red blood cells. Wherein this test red cells are also shown in different size and shape. In people who have thalassemias they are experiencing problems with their alpha or beta globin protein chains of hemoglobin. So moderate and severe thalassemias are usually diagnosed in early childhood because within the first 2 years of life signs and symptoms often occurs. Before the baby is born, you can find out if it has thalassemia and how severe the baby may have it be through prenatal testing. Sample used in prenatal test is amniotic fluid or tissue from placenta. Amniotic fluid is the fluid in the sac surrounding a growing embryo. There are also other test to diagnose thalassemia that includes chorionic villus sampling, amniocentes, and assisted reproductive technology. Prepared by: JIMENEZ, VLADIANNE P. Page 4

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In chorionic villus samplings, it is done around the 11th week of pregnancy, removing a tiny piece of the placenta that they used for evaluation. The other test is amniocentes that is done around 16th week of pregnancy also, wherein they take sample of fluids that surrounds the fetus. There is then a condition where fetuses die before delivery or after birth because of the condition of an alpha thalassemia or a hydrops fetalis. Lastly the other test is an assisted reproductive technology, where this technology combines with the pre-implantation genetic diagnosis with in vitro fertilization. In this test it helps parents to give birth to healthy babies even though parents have thalassemia and also to carriers of a defective hemoglobin gene. Procedure in this test it involves retrieving mature eggs from a woman and fertilizing them with a man's sperm in a dish in a laboratory. And then embryos are tested for the defective genes, and only those without genetic defects are implanted in the woman. There is no specific treatment for persons who are silent carriers or have alpha thalassemia minor where two genes is defective. But there are therapies that are necessary to support and to prolong life. However there is no cure for thalassemia major where there is a fatal condition in which all four alpha forming genes are defective. So prenatal diagnosis and genetic counselling may be the most important therapeutic measures that can be offered to those patients having thalassemia.

Reference: Retrieve from http://www.childrenshospital.org/health-topics/conditions/thalassemia . September 22,2013 . 5:05 pm Retrieve from:http://www.nhlbi.nih.gov/health/healthtopics/topics/thalassemia/diagnosis.html .

September 22, 2013. 5:08 pm Brunners & Suddarths. Textbook of medical-surgical nursing. Eleventh edition. Vol 2,pp.150.542

Huether, S.E, McCance, K.L. Understanding pathophysiology. 3rd edition.pp 59,581,1061

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