THALASSEMIA PRESENTED BY “Sir Sanjaykumar M. Vasoya” {Biotechnologist} [Owner of Village Education & Health Research Organization.] Researcher & Consulting of Enhancement of Bioenergy (Zysun Biotech) Anax Lifescience Pvt. Ltd. (Sub Owner) R&D Manager for Castor Cultivation & Castor Oil Processing ETG Agro Processing Africa Ltd Call: - +245 731865085 (Kenya) +255 788366219 (Tanzania) Skype: - sanjuvasoya Email: - sanjay.etg@gmail.com Web: http://sanjuvasoya.wordpress.com

CONTENTS Introduction What is Thalassemia ? Causes Of Thalassemia Hemoglobin Types of Thalassemia Research Related on Thalassemia Conclusion References

INTRODUCTION Thalassemia is a heterogenous group of genetic ihherited disorder which result from a reduced rate of alpha & beta thalassemia. It may have originated over 50,000 year ago. It was recognized by as clincal entity by Dr.Thomas Cooley & Dr. Pears Lee in 1925. It shows mainly in this area.

What is Thalassemia ? People with thalassemia have inherited blood disorder that cause mild or severer anemia. The anemia is due to reduced hemoglobin & fewer red blood cells than normal. Mild thalassemia usually does not cause any symptoms. Severe form of thalassemia shows symptoms such as weakness, pale skin, dark urine, weight loss, rapid heartbeat & blood in urine.

CAUSES OF THALASSEMIA Thalassemia is caused by variant or missing genes that affect how the body makes hemoglobin. There are many possible combination of variant genes that cause the various types of thalassemia. A person who inherits a thalassemia gene or genes from one parent and normal genes from the other parent is a carrier.

HEMOGLOBIN Structure : The main hemoglobin in adult human is hemoglobin A and it containts two alpha and two beta subunits. The minor hemoglobin gamma and delta chains instead of beta chains.

Types of thalassemia : Types of hemoglobin Polypeptide Chains Notes Hemoglobin A 2 alpha, 2 beta 97% of normal adult hemoglobin Hemoglobin A2 2 delta 2.5% of normal adult hemoglobin Hemoglobin F 2 gamma Normal foetal hemoglobin

Hemoglobin Synthesis

Hemoglobin Function : Hemoglobin is protein that is carried by red cells. It picks up oxygen in the lungs and delivers it to peripheral tissues to maintain the viability of cells.

Hemoglobin Abnormalities: These result from following : Synthesis of an abnormal hemoglobin. Reduced rate of synthesis of normal alpha or beta globin chains. In many cases the abnormality is comletely silent. The genetic defects of hemoglobin are most common genetic disorders worldwide.

TYPES OF THALASSEMIA Alpha thalassemia Beta thalassemia Delta-Beta thalassemia Thalassemia intermedia Hemoglobin lepore

Alpha thalassemia Gene deletions are responsible for the decrease in or absence of alpha chains in most of alpha thalassemia.

Types of alpha thalassemia : Alpha thalassemia major Alpha thalassemia carrier Hemoglobin H disease Silent alpha thalassemia carrier

Beta Thalassemia : Beta thalassemia is caused by a genetic mutation in the beta-globin gene.

Types of Beta thalassemia : Beta thalassemia major Beta thalassemia minor

Beta thalassemia major This condition is also known as Mediterranean or Cooley’s anemia and occurs on average in one in four offsprings if both parents are carries of beta thalassemia trait. Either no beta chain or small amounts are synthesized.

Beta thalssemia minor: This is common, usually symptomless abnormally characterized like alpha thalassemia trait.

Treatment of thalassemia: Regular blood transfusions are needed to maintain hemoglobin level .Severe forms of thalassemia are treated by regular blood transfusions.

Folic acid is a B vitamin that helps build red blood cell Folic acid is a B vitamin that helps build red blood cell. People with thalassemia should take folic acid supplements. Iron Chelation Therapy uses medicine to remove excess iron that builds up in the body when a person has regular blood transfusion. If the iron is not removed it damages body organs such as heart and liver. Bone marrow transplants have cured some cases of thalassemia. The success rate of it is as high as 95%, if there is no prior serious organ damage such as excess deposition of iron.

THALASSEMIA INTERMEDIA Thalassemia with clinical features between those of thalassemia minor and major is called thalassemia intermedia. It is milder form of thalassemia that is caused by the inheritance of one of the more severe thalassemic genes and one of the milder thalassemic gene.

DELTA-BETA THALASSEMIA: The gene controlling delta chain production is located very close to the beta gene on chromosome 11. If one gene is deleted then the other may be affected.

HEMOGLOBIN LEPORE: This is an abnormal hemoglobin due to unequal crossing-over of the β and δ genes to produce a polypeptide chain consisting of the δ chains at its amino end and β chain at its carboxyl end.

RESEARCH RELATED ON THALASSEMIA: Researchers are also studying other treatments, including: Gene therapy: It may be possible to cure and unborn child with thalassemia by inserting a normal gene into the childs stem cells. Fetal hemoglobin:reasearchers are studying ways to enhance the production fetal hemoglbin in people with thalassemia

CONCLUSION : The thalassemias are relatively common diseases. Genetic counseling is paramount, and may even decrease the incidence of the more serious conditions .Most children tolerate the anemia quite well and do not require any interventions. Thalassemia minor will never go away; people who think they have thalassemia minor or are at risk should have blood test so in future they can be aware for themselves in terms of not having a thalassemia major child. Also by having blood test will help the community so that, exact number of people who carry thalassemia minor can be assessed. Thalassemia major can be cured by bone marrow transplantation but, rarely will it successes.

REFERENCES: Website: Books: http://www.thalassemia.com http://www.nucleusinc.com http://www.geocities.com http://www.wrongdiagnosis.com http://www.commeunity.com http://www.nhbi.nih.gov Books: A.V.HOFFBRAND & J. E.PETTIT Essential Hematology(3rd edition) page no97-110 EMMANUEL C. BESA & PATRICIA M. CATALANO & JEFFREY A. KANT & LEIGH C. JEFFERIES . Hematology page no 116-120

Thank You