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Thalassemia

Definition of Thalassemia
The thalassemias are a diverse group of genetic blood diseases characterized by absent or decreased production of normal hemoglobin, resulting in microcytic anemia of varying degree.

Two Major Forms of Thalassemia


Alpha Caused by a decrease in production of the alpha-globin genes due to a deletion or mutation of one or more of four alpha-globin genes on chromosome 16. Beta Caused by mutations of the beta-globin genes on chromosome 11.

Four Types of Alpha Thalassemia


Silent Carrier - 3 functional genes. Alpha Thalassemia Trait - 2 functional & 2 non-functional genes. Hemoglobin H disease - 1 functional gene. Alpha Thalassemia Major - no functional genes.

Three Types of Beta Thalassemia


Beta Thalassemia Trait - one affected allele of chromosome 11. Beta Thalassemia Intermedia - one or two affected alleles, but only mild symptoms experienced. Beta Thalassemia Major - both alleles are affected and require blood transfusions and drug treatments to survive.

History of Thalassemia
Beta Thalassemia was first described by Thomas Cooley, known as Cooleys anemia in 1925. Symptoms exhibited: Anemia Splenomegaly ( due to increased activity/filtering of the red blood cells) Enlargement of the Liver Discoloration of the Skin Enlargement of the Cranial and Facial Bones

Severe Symptoms
In more severe types of thalassemia, such as Cooley's anemia, symptoms may include: Fatigue and weakness Pale skin or jaundice (yellowing of the skin) Protruding abdomen with enlarged spleen and liver Dark urine Abnormal facial bones and poor growth.

What Is Thalassemia?
Thalassemia is a group of inherited blood diseases that affect a person's ability to produce hemoglobin in red blood cells. A person with thalassemia does not have enough hemoglobin or red blood cells to carry oxygen throughout the body, which can cause mild to severe anemia.

DIAGNOSTIC FEATURES OF BETA-THALASSAEMIA


Major Profound hypochromic anaemia Evidence of severe red cell dysplasia Erythroblastosis Absence or gross reduction of the amount of haemoglobin A Raised levels of haemoglobin F Evidence that both parents have thalassaemia minor Minor Mild anaemia Microcytic hypochromic erythrocytes (not iron-deficient) Some target cells Punctate basophilia Raised resistance of erythrocytes to osmotic lysis Raised haemoglobin A2 fraction Evidence that one parent has thalassaemia minor

Differences Between Thalassemia and Iron-deficient Anemia


Thalassemia Thalassemia is hereditary. Iron is present in the bone marrow. Microcytosis is usually very severe. Basophilic stippling of red blood cells is common. Does not respond to Iron therapy. Iron deficient Anemia Iron-deficient anemia is not hereditary. Iron is absent in the bone marrow. Microcytosis is mild or absent. Less frequent basophilic stippling of red blood cells. Responds to iron therapy.

Similarities Between Thalassemia and Iron-Deficient Anemia


Red Blood Cell fragility is decreased. Plasma iron may be decreased. Target cells are present.

Thalassemia and Malaria


Malaria Hypothesis, the corpuscles of the anemic heterozygote are smaller than normal, and more resistant to hypotonic solutions. It is at least conceivable that they are also more resistant to attacks by the sporozoa which cause malaria. Studies have shown that individuals born with the thalassemia trait can survive malaria and pass the trait onto the next generation.

TREATMENT OF BETA-THALASSAEMIA MAJOR


1). Erythropoietic failure: Allogeneic bone marrow transplantation from human leucocyte antigen (HLA)-compatible sibling Transfusion to maintain Hb > 100 g/l Folic acid 5 mg daily 2).Iron overload: Iron therapy forbidden Desferrioxamine therapy 3).Splenomegaly: causing mechanical problems, excessive transfusion needs Splenectomy

Methods for treatment


Blood transfusion Surgery Bone marrow or stem cell transplant Fetal hemoglobin Gene therapy Other treatment- vitamin supplement

Prevention
It is possible to identify a fetus with homozygous beta-thalassaemia by obtaining chorionic villous material for DNA analysis sufficiently early in pregnancy to allow termination. This examination is only appropriate if both parents are known to be carriers (beta-thalassaemia minor) and will accept a termination.