Thalassaemia

Thalassaemia Major-Free Pakistan by the year 2025.

<div dir="ltr" style="text-align: left;" trbidi="on">
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhPKNRovLl7RgHsi1wI9DLmbXrKoPBY2Xi21klkgRsoSILgjwayU1-2FYKqYr3gb4DnWXGDCd8rwnX1Gm2xK8cwPqdFx_UGJN14_4IDtgyvTXqG9cvxrFgpLILt04NC4wxCgdZOk1plHwo/s1600/tfp.JPG" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhPKNRovLl7RgHsi1wI9DLmbXrKoPBY2Xi21klkgRsoSILgjwayU1-2FYKqYr3gb4DnWXGDCd8rwnX1Gm2xK8cwPqdFx_UGJN14_4IDtgyvTXqG9cvxrFgpLILt04NC4wxCgdZOk1plHwo/s1600/tfp.JPG" /></a></div>
<br /><b>1. Know your thalassemia status </b><br />• All individuals who are or shall ever be in the reproductive phase (children) should have their thalassemia status checked by a simple blood test called hemoglobin electrophoresis. This is even more important if there is/was a family member with thalassemia minor/major. Since thalassemia status NEVER changes in life, it can be ascertained at capital ONE TIME at convenience, after the first sixth months of life.<br /><br />• Those who are past the reproductive period need not get this test done<br /><br />• All clinical laboratories and all thalassemia centers should offer this test at an affordable and subsidized rate as their moral obligation towards the society, the country and the mankind.<br /><br /><b>2. ß-thalassemia minors must not marry each other </b><br />Since ß-thalassemia major is the product of sexual contact between individuals with ß-thalassemia minor, it is an absolute must that carriers of ß-thalassemia gene should voluntarily decline marrying each other. Elders in the family should play their role to ensure compliance and enforce implementation.<br /><br /><b>3. Get antenatal diagnosis done</b><br />If marriage between two ß-thal. minors is inevitable (for social, financial or other reasons beyond control), the couple should not produce its own children; it should adopt. It this too is unacceptable, the status of the fetus (the unborn child) must be verified between the 10th and the 12th week of pregnancy. This is possible through a technique called antenatal diagnosis which is now available in Pakistan.<br /><br /><b>4. Decide on ß-thalassemia major pregnancy</b><br />Result of antenatal diagnosis for thalassemia status of the unborn in each pregnancy in such marriages shall statistically be as follows:<br /><br />25% chance : normal baby (better than the parents)<br />50% chance : ß-thalassemia minor baby (same as the parents)<br />25% chance : ß-thalassemia major baby (the dreaded outcome; bad news for the baby, the family, the nation and the mankind)<br /><br />Pregnancies in the first two situations should be allowed to proceed naturally. The third option shall produce a baby with ß-thalassemia major. To decide on the fate of such pregnancies is the prerogative of the parents and the family as a whole. To seek religious guidelines on this issue a copy of a fatwa from Maulana Taqi Usmani is reproduced at the back page. Decision may be made in the light of the contents of this fatwa. For further guidance parents are urged to consult other religious scholars while making a decision on the future of pregnancies which are likely to produce children with ß-thalassemia major.<br /><br /><b>5. Law to prohibit marriages between ß-thal.minors</b><br />Government should enact a legislation to make it mandatory for each citizen who is or shall ever be in the reproductive phase to have his <a href="http://pakhematology.com/">thalassemia</a> status defined. A certificate to this effect should be made a pre-requisite for admission to teaching institutions, NIC / driving license / passport / private and public employment and at the time of registration for marriage. Non-implementation/non-compliance or false certification should be declared a culpable offense against the society and the nation.</div>

Thalassaemia Major-Free Pakistan by the year 2025.

1. Know your thalassemia status • All individuals who are or shall ever be in the reproductive phase (children) should have their thalass...

Answers to important questions about Thalassaemia Part 3

Answers to important questions about Thalassaemia Part 3

Question 21: Are patients with thalassemia dependant on repeated blood transfusion? Answer: Patients with thalassemia minor either have ...

Answers to important questions about Thalassaemia Part 2

<div dir="ltr" style="text-align: left;" trbidi="on">
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgnzLxKgRyxc2UuywI7Y6i0c0WiWqQq0dkclirs2ZbuV7Z1kiCQAyX3-vDzRPkuVcjtpdkrh1m7RNkMIcvEyviEBAHHJ6Qk_5QgR8ycpJOPNcbtwUdFW_QbwzvBBHlwpysQdPg_VoS-LeA/s1600/qna.JPG" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="191" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEgnzLxKgRyxc2UuywI7Y6i0c0WiWqQq0dkclirs2ZbuV7Z1kiCQAyX3-vDzRPkuVcjtpdkrh1m7RNkMIcvEyviEBAHHJ6Qk_5QgR8ycpJOPNcbtwUdFW_QbwzvBBHlwpysQdPg_VoS-LeA/s320/qna.JPG" width="320" /></a></div>
<b>Question 11: Can a child with thalassemia major lead a normal life?</b><br />
<br />
Answer: With proper transfusion therapy and effective iron chelation regime, patients with thalassemia major can lead a normal or near normal life. However despite the best possible management their life span is still short. In countries where there are highly organized thalassemia centers, the average life span is 30-35 years.<br />
<br />
<b>Question 12: Are there other types of traits that can combine with thalassemia trait to cause the disease?</b><br />
Answer: Sickle cell trait is sometimes inherited with beta-thalassemia trait when one parent has thalassemia (minor) and the other has sickle cell trait or sickle cell disease. Hb-C-thalassemia and Hb-D-thalassemia are the other examples of inheritance of two separate traits.<br />
<div style="margin-bottom: 15px; margin-top: 10px;">
<b>Question 13: Umbilical cord cell transplantation is introduced in America which minimizes the chances of death of thalassemia patients; Is this available in Pakistan?</b><br />
Answer: Umbilical cord blood is rich source of hematopoietic stem cells and is being used for stem cell transplantation. It is safe procedure but the benefits to the recipient are comparable to those with bone marrow or peripheral blood stem cell transplantation. The procedure has recently been mode available in Pakistan.</div>
<b>Question 14: As thalassemia is an inherited disease, can we cell it a ‘family’ disease?</b><br />
Answer: thalassemia is a genetic disorder which runs in families; it is therefore a familial disease. Disorders which run in families and are genetically transmitted or called here do-familial disease. This is to separate them from those disorders which do run in families but they are not genetically transmitted; (they are familial but not hereditary as exemplified by diabetes and high blood pressure).<br />
<br />
<b>Question 15: thalassemia reduces the amount of hemoglobin; what measures can be taken so as not to cause thalassemia?</b><br />
Answer: Maintenance of hemoglobin at or near normal level does not prevent thalassemia. Reduction in the level of hemoglobin is an effect, NOT a cause of thalassemia. Blood transfusion is given to treat anemia; it is not expected to prevent or to eliminate thalassemia.<br />
<br />
<b>Question 16: What is genetic counseling; how can we contact a genetic counselor and what can you say on antenatal services?</b><br />
Answer: Genetic counseling is aimed at informing people about various aspects of genetic disorders; this includes information about the ways by which genetic disorders come about, their ill effects, how to counter them and how to avoid their transmission. There are no available means of eliminating genetic diseases from a population.<br />
Every physician can be a genetic councilor and advise families about genetic disorders. More organized and comprehensive services are available at various thalassemia centers. Also there are specialists in genetic disorders at various institutes including medical colleges and the universities. Considerable information can now be obtained through modern means of mass communication.<br />
Antenatal services are a highly specialized field of medicine. At present there are not many centers which provide these services; some thalassemia centers are planning to offer more organized and effective antenatal services. More needs to be done in the near future. The term antennal service means medical services available for the pregnant lady and also for the unborn baby.<br />
<br />
<b>Question 17: Is it true that a person who has thalassemia turns blue after death? If yes, then what causes it?</b><br />
Answer: The color of the deceased person is due to a number of events which take place terminally. To some extent it is also influenced by the diseases which the person had during life. thalassemia cannot be specifically singled out.<br />
<br />
<b>Question 18: We know of two basic forms of thalassemia, i.e. major and minor; increased our knowledge by throwing light on thalassemia Intermedia?</b><br />
Answer: thalassemia Intermedia, as the name suggests, occupies a position between thalassemia minor and thalassemia major. It is not as asymptomatic and ‘harmless’ thalassemia minor yet these children are anemic; they maintain their hemoglobin at 7-8grams per 100 ml of blood without transfusion which is only occasionally required. The disease is inherited from both parents(like thalassemia major) but unlike thalassemia major, the gene inherited from each parents is not totally defunct. They do produce some normal beta globin chains which enable these children to make some hemoglobin. It is important to diagnose this disease precisely so that these children are not given blood transfusion unnecessarily.<br />
<br />
<b>Question 19: Are there any side effects of repeated blood transfusion and for how long chronically transfused thalassemias are expected to live?</b><br />
Answer: Blood transfusion is not without its own hazards. Excessive and repeated blood transfusion causes cardiac overload and heart failure. Iron which is an integral part of hemoglobin accumulates in patients who are on an ongoing transfusion therapy. Excess iron damages the heart, the liver, the pancreas and other ductless glands (endocrine glands) which perform extremely important functions in the body. In order to save these patients from iron-induced bodily harm, a regular program to eliminated iron from the body is instituted. A drug called Desferioxamine (Desferal) has proven efficacy in this respect. Regular administration of this drug protects their vital organs, prolongs life and makes it more comfortable and functionally more fruitful. Despite all the care and the expense, most of these children die by the age of 15 years.<br />
<br />
<b>Question 20: What percentages of people in Pakistan are suffering from this disease?</b><br />
Answer: In Pakistan, the carrier rate of thalassemia gene is nearly 6% (a carrier is a person who has the abnormal gene but does not show any significant clinical disease). Carriers are instrumental in transmitting the disease to their children. The incidence of thalassemia major (the disease) is fortunately low. Every year nearly 6000 children with beta-thalassemia major are born in Pakistan.<br />
The number of asymptomatic carries of the thalassemia gene (thalassemia minor) in Pakistan is approximately 8 millions.<br />
Carriers of thalassemia gene are for all practical purposes, normal individuals; they do not need any blood support. Patients with beta-thalassemia major however are dependent on regular blood transfusion and they require this support for life.</div>

Answers to important questions about Thalassaemia Part 2

Question 11: Can a child with thalassemia major lead a normal life? Answer: With proper transfusion therapy and effective iron chelatio...

Answers to important questions about Thalassaemia Part 1

<div dir="ltr" style="text-align: left;" trbidi="on">
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhg_RlElDGxSEqDKnyprBRxz76kmflT6U0CQX4ul9BHcYs7a5TY5sqbznL8Lw5TE14qq55Bt9AG1iaKXMRz8Yj7x5kEAxzXrmKSUvPrz1nCoOVsWsT6qOMqIGBXFf4lgSKB5olYfWcK8nE/s1600/qna.JPG" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="191" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhg_RlElDGxSEqDKnyprBRxz76kmflT6U0CQX4ul9BHcYs7a5TY5sqbznL8Lw5TE14qq55Bt9AG1iaKXMRz8Yj7x5kEAxzXrmKSUvPrz1nCoOVsWsT6qOMqIGBXFf4lgSKB5olYfWcK8nE/s320/qna.JPG" width="320"></a></div>
<b>Question 1: If one parent has alpha- thalassemia minor while the other has beta- thalassemia minor, which type of the thalassemia will the child have?</b><br><br>Answer: In this marriage for every pregnancy, there will be a 25% chance of conceiving a normal baby, 25% of alpha-thalassemia minor, 25% chance of beta- thalassemia minor 25% chance of having a baby with alpha-beta thalassemia which will clinically behave as thalassemia Intermedia (more severe than thalassemia minor but less severe than thalassemia major).<br></div>

Answers to important questions about Thalassaemia Part 1

Question 1: If one parent has alpha- thalassemia minor while the other has beta- thalassemia minor, which type of the thalassemia will th...

Information about Beta Thalassemia Minor

<div dir="ltr" style="text-align: left;" trbidi="on">
<b>A  glance at Beta Thalassemia minor</b><br>
<br>
Age : 24<span class="Apple-tab-span" style="white-space: pre;">	</span>           Sex: Female      Occupation:<span class="Apple-tab-span" style="white-space: pre;">	</span> Housewife<br>
<u>NUMERICAL VALUES</u><br>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhEpNY42xKYK2WWQiUl_vPqWhTxOACkpgltBosdpLIumdzRzj8ixwFfJ3dHKeDFJwXJvxIJL_BpKOBI3jqIEcNcX6GlDLa-ojRtdWbwJbzNyXaOAhVeqAKdDojhdCJ9C4y3ypE1F8eAr4w/s1600/thalassaemia-blood-picture.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhEpNY42xKYK2WWQiUl_vPqWhTxOACkpgltBosdpLIumdzRzj8ixwFfJ3dHKeDFJwXJvxIJL_BpKOBI3jqIEcNcX6GlDLa-ojRtdWbwJbzNyXaOAhVeqAKdDojhdCJ9C4y3ypE1F8eAr4w/s1600/thalassaemia-blood-picture.jpg"></a></div>
<br>
<br>
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhi73ab9hMGt7s9YUvxCWp7tRNKK0A6zbn9ribZ0bAe3T1m4NiB2zgvthBHV4NKA7GPPODdQqIpO8rUW6P-0ru2eXamSD6uk0QIWGkV96-7aC1LDV_e943G9HYirDcsvCJw9IxsjzjZksg/s1600/thalassaemia-red-cells-indices.jpg" imageanchor="1" style="margin-left: 1em; margin-right: 1em;"><img border="0" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhi73ab9hMGt7s9YUvxCWp7tRNKK0A6zbn9ribZ0bAe3T1m4NiB2zgvthBHV4NKA7GPPODdQqIpO8rUW6P-0ru2eXamSD6uk0QIWGkV96-7aC1LDV_e943G9HYirDcsvCJw9IxsjzjZksg/s1600/thalassaemia-red-cells-indices.jpg"></a></div>
<br>
<b>Beta – Thalassaemia Minor</b><br>
<br>
Beta-thalassemia minor is a genetic disorder which shows strong geographical predilection. It is mostly encountered along the Mediterranean belt, the Arabian Peninsula and the Indo-Pak subcontinent. In Pakistan the frequency of beta-thalassemia gene is nearly 6 %. It is therefore not uncommon to come across these patients in clinical practice. A systematic analysis of the hemogram highlights the following features.<br>
</div>

Information about Beta Thalassemia Minor

A glance at Beta Thalassemia minor Age : 24 Sex: Female Occupation: Housewife NUMERICAL VALUES Beta – Thal...

Introduction to thalassaemia

<div dir="ltr" style="text-align: left;" trbidi="on">
<div class="separator" style="clear: both; text-align: center;">
<a href="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhckFqcWPSDnJpypCBGQCzg7z8gUJgbmNvDJCnv9XzEgUFpDfYVkKA8OofvrQMl2uoOno5xl61FCDKUI-Ef07X910XnoYb9heSrJLd29vHetLWe1T43aHMHbPgET71edf462z2cYBm0GoM/s1600/thalassaemia+intro.JPG" imageanchor="1" style="clear: left; float: left; margin-bottom: 1em; margin-right: 1em;"><img border="0" height="207" src="https://blogger.googleusercontent.com/img/b/R29vZ2xl/AVvXsEhckFqcWPSDnJpypCBGQCzg7z8gUJgbmNvDJCnv9XzEgUFpDfYVkKA8OofvrQMl2uoOno5xl61FCDKUI-Ef07X910XnoYb9heSrJLd29vHetLWe1T43aHMHbPgET71edf462z2cYBm0GoM/s320/thalassaemia+intro.JPG" width="320"></a></div>
<div id="pathway" style="width: 570px;">
<b>Introduction to Thalassemia</b><br>
<br>
Thalassemias are a heterogeneous group of genetically determined hemolytic anemias due to an impaired synthesis of globin chains which are an integral part of the hemoglobin molecule. Originally diagnosed in Greece, the disease was named thalassemia (the sea) because of the geographical location of Greece along the Mediterranean Sea since its original discovery; the disease has been found to be prevalent in the Mediterranean countries, in the Middle East, the Indo-Pak subcontinent and the South-East Asian countries. This stretch of land is collectively called the thalassemia belt. With rapid migration of the population across the globe and the world transforming into a global village, the concept of ‘thalassemia belt’ is giving way to globalization of thalassemias.<br>
</div></div>

Introduction to thalassaemia

Introduction to Thalassemia Thalassemias are a heterogeneous group of genetically determined hemolytic anemias due to an impaired synt...

Featured post