THALASSEMIATHALASSEMIAPRESENTED BYPRESENTED BY

““Sir Sanjaykumar M. Vasoya”Sir Sanjaykumar M. Vasoya”

{Biotechnologist}{Biotechnologist}

[Owner of Village Education & Health Research [Owner of Village Education & Health Research Organization.]Organization.]

Researcher & Consulting of Enhancement of Bioenergy Researcher & Consulting of Enhancement of Bioenergy (Zysun Biotech)(Zysun Biotech)

Anax Lifescience Pvt. Ltd. (Sub Owner)Anax Lifescience Pvt. Ltd. (Sub Owner)

R&D Manager for Castor Cultivation & Castor Oil R&D Manager for Castor Cultivation & Castor Oil ProcessingProcessing

ETG Agro Processing Africa LtdETG Agro Processing Africa Ltd

Call: - +245 731865085 (Kenya)Call: - +245 731865085 (Kenya)

+255 788366219 (Tanzania)+255 788366219 (Tanzania)

Skype: - sanjuvasoyaSkype: - sanjuvasoya

Email: - sanjay.etg@gmail.com Email: - sanjay.etg@gmail.com

Web: http://sanjuvasoya.wordpress.comWeb: http://sanjuvasoya.wordpress.com

CONTENTSCONTENTS

IntroductionIntroduction What is Thalassemia ?What is Thalassemia ? Causes Of ThalassemiaCauses Of Thalassemia HemoglobinHemoglobin Types of ThalassemiaTypes of Thalassemia Research Related on ThalassemiaResearch Related on Thalassemia ConclusionConclusion ReferencesReferences

INTRODUCTIONINTRODUCTION Thalassemia is a heterogenous Thalassemia is a heterogenous

group of genetic ihherited group of genetic ihherited disorder which result from a disorder which result from a reduced rate of alpha & beta reduced rate of alpha & beta thalassemia.thalassemia.

It may have originated over It may have originated over 50,000 year ago. It was 50,000 year ago. It was recognized by as clincal entity recognized by as clincal entity by Dr.Thomas Cooley & Dr. by Dr.Thomas Cooley & Dr. Pears Lee in 1925.Pears Lee in 1925.

It shows mainly in this area.It shows mainly in this area.

What is Thalassemia ?What is Thalassemia ?

People with thalassemia have inherited People with thalassemia have inherited blood disorder that cause mild or blood disorder that cause mild or severer anemia. The anemia is due to severer anemia. The anemia is due to reduced hemoglobin & fewer red blood reduced hemoglobin & fewer red blood cells than normal.cells than normal.

Mild thalassemia usually does not cause Mild thalassemia usually does not cause any symptoms. Severe form of any symptoms. Severe form of thalassemia shows symptoms such as thalassemia shows symptoms such as weakness, pale skin, dark urine, weight weakness, pale skin, dark urine, weight loss, rapid heartbeat & blood in urine.loss, rapid heartbeat & blood in urine.

CAUSES OF CAUSES OF THALASSEMIATHALASSEMIA

Thalassemia is caused by variant or Thalassemia is caused by variant or missing genes that affect how the missing genes that affect how the body makes hemoglobin. body makes hemoglobin.

There are many possible combination There are many possible combination of variant genes that cause the of variant genes that cause the various types of thalassemia.various types of thalassemia.

A person who inherits a thalassemia A person who inherits a thalassemia gene or genes from one parent and gene or genes from one parent and normal genes from the other parent is normal genes from the other parent is a carrier.a carrier.

HEMOGLOBINHEMOGLOBIN

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

Types of thalassemia :Types of thalassemia :

Types of Types of hemoglobihemoglobinn

PolypeptPolypeptide ide

Chains Chains

Notes Notes

Hemoglobin Hemoglobin AA

2 alpha, 2 alpha,

2 beta2 beta97% of normal 97% of normal adult hemoglobinadult hemoglobin

Hemoglobin Hemoglobin AA22

2 alpha, 2 alpha,

2 delta2 delta2.5% of normal 2.5% of normal adult hemoglobinadult hemoglobin

Hemoglobin Hemoglobin FF

2 alpha, 2 alpha,

2 gamma2 gammaNormal foetal Normal foetal hemoglobin hemoglobin

Hemoglobin SynthesisHemoglobin Synthesis

Hemoglobin Function :Hemoglobin Function : Hemoglobin is protein that is carried by red Hemoglobin is protein that is carried by red

cells. It picks up oxygen in the lungs and cells. It picks up oxygen in the lungs and delivers it to peripheral tissues to maintain the delivers it to peripheral tissues to maintain the viability of cells.viability of cells.

Hemoglobin Hemoglobin Abnormalities:Abnormalities:

These result from following :These result from following :

1.1. Synthesis of an abnormal hemoglobin. Synthesis of an abnormal hemoglobin.

2.2. Reduced rate of synthesis of normal Reduced rate of synthesis of normal alpha or beta globin chains.alpha or beta globin chains.

In many cases the abnormality is In many cases the abnormality is comletely silent. The genetic defects comletely silent. The genetic defects of hemoglobin are most common of hemoglobin are most common genetic disorders worldwide. genetic disorders worldwide.

TYPES OF TYPES OF THALASSEMIATHALASSEMIA

Alpha thalassemiaAlpha thalassemia Beta thalassemiaBeta thalassemia Delta-Beta thalassemiaDelta-Beta thalassemia Thalassemia intermediaThalassemia intermedia Hemoglobin leporeHemoglobin lepore

Alpha thalassemiaAlpha thalassemia

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

Types of alpha Types of alpha thalassemia :thalassemia :

I.I. Alpha thalassemia majorAlpha thalassemia major

II.II. Alpha thalassemia carrierAlpha thalassemia carrier

III.III. Hemoglobin H diseaseHemoglobin H disease

IV.IV. Silent alpha thalassemia carrierSilent alpha thalassemia carrier

Beta Thalassemia :Beta Thalassemia : Beta thalassemia is caused by a genetic Beta thalassemia is caused by a genetic

mutation in the beta-globin gene.mutation in the beta-globin gene.

Types of Beta Types of Beta thalassemia :thalassemia :

I.I. Beta thalassemia majorBeta thalassemia major

II.II. Beta thalassemia minorBeta thalassemia minor

Beta thalassemia majorBeta thalassemia major This condition is also known as Mediterranean or This condition is also known as Mediterranean or

Cooley’s anemia and occurs on average in one in Cooley’s anemia and occurs on average in one in four offsprings if both parents are carries of beta four offsprings if both parents are carries of beta thalassemia trait. Either no beta chain or small thalassemia trait. Either no beta chain or small amounts are synthesized.amounts are synthesized.

Beta thalssemia minor:Beta thalssemia minor: This is common, usually symptomless abnormally This is common, usually symptomless abnormally

characterized like alpha thalassemia trait.characterized like alpha thalassemia trait.

Treatment of Treatment of thalassemia:thalassemia:

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

Folic acid is a B vitamin that helps build Folic acid is a B vitamin that helps build red blood cell. People with thalassemia red blood cell. People with thalassemia should take folic acid supplements.should take folic acid supplements.

Iron Chelation Therapy uses medicine to Iron Chelation Therapy uses medicine to remove excess iron that builds up in the remove excess iron that builds up in the body when a person has regular blood body when a person has regular blood transfusion. If the iron is not removed it transfusion. If the iron is not removed it damages body organs such as heart and damages body organs such as heart and liver.liver.

Bone marrow transplants have cured Bone marrow transplants have cured some cases of thalassemia. The some cases of thalassemia. The success rate of it is as high as 95%, if success rate of it is as high as 95%, if there is no prior serious organ damage there is no prior serious organ damage such as excess deposition of iron. such as excess deposition of iron.

THALASSEMIA THALASSEMIA INTERMEDIAINTERMEDIA

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

DELTA-BETA DELTA-BETA THALASSEMIA:THALASSEMIA:

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

HEMOGLOBIN LEPORE:HEMOGLOBIN LEPORE:

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

RESEARCH RELATED ON RESEARCH RELATED ON THALASSEMIA:THALASSEMIA:

Researchers are also studying other Researchers are also studying other treatments, including:treatments, including:

Gene therapy: It may be possible to cure Gene therapy: It may be possible to cure and unborn child with thalassemia by and unborn child with thalassemia by inserting a normal gene into the childs inserting a normal gene into the childs stem cells.stem cells.

Fetal hemoglobin:reasearchers are Fetal hemoglobin:reasearchers are studying ways to enhance the production studying ways to enhance the production fetal hemoglbin in people with fetal hemoglbin in people with thalassemia thalassemia

CONCLUSION :CONCLUSION : The thalassemias are relatively common diseases. The thalassemias are relatively common diseases.

Genetic counseling is paramount, and may even Genetic counseling is paramount, and may even decrease the incidence of the more serious decrease the incidence of the more serious conditions .Most children tolerate the anemia quite conditions .Most children tolerate the anemia quite well and do not require any interventions.well and do not require any interventions.

Thalassemia minor will never go away; people who Thalassemia minor will never go away; people who think they have thalassemia minor or are at risk think they have thalassemia minor or are at risk should have blood test so in future they can be aware should have blood test so in future they can be aware for themselves in terms of not having a thalassemia for themselves in terms of not having a thalassemia major child. Also by having blood test will help the major child. Also by having blood test will help the community so that, exact number of people who community so that, exact number of people who carry thalassemia minor can be assessed.carry thalassemia minor can be assessed.

Thalassemia major can be cured by bone marrow Thalassemia major can be cured by bone marrow transplantation but, rarely will it successes.transplantation but, rarely will it successes.

REFERENCES:REFERENCES:

WebsiteWebsite:: http://http://www.thalassemia.com http://http://www.nucleusinc.com http://http://www.geocities.com http://http://www.wrongdiagnosis.comdiagnosis.com http://http://www.commeunity.com http://www.nhbi.nih.govhttp://www.nhbi.nih.gov

Books:Books: A.V.HOFFBRAND & J. E.PETTIT Essential Hematology(3rd A.V.HOFFBRAND & J. E.PETTIT Essential Hematology(3rd

edition) page no97-110edition) page no97-110 EMMANUEL C. BESA & PATRICIA M. CATALANO & EMMANUEL C. BESA & PATRICIA M. CATALANO &

JEFFREY A. KANT & LEIGH C. JEFFERIES . Hematology JEFFREY A. KANT & LEIGH C. JEFFERIES . Hematology page no 116-120 page no 116-120