What Are Thalassemias? Thalassemias (thal-a-SE-me-ahs) are inherited blood disorders.

"Inherited" means that the disorder is passed from parents to children through genes. Thalassemias cause the bod to ma!e fe"er health red blood cells and less hemoglobin (#EE-muh-glo"-bin) than normal. #emoglobin is an iron-rich protein in red blood cells. It carries o$ gen to all parts of the bod . #emoglobin also carries carbon dio$ide (a "aste gas) from the bod to the lungs% "here it&s e$haled. 'eople "ho ha(e thalassemias can ha(e mild or se(ere anemia (uh-)EE-me-uh). Anemia is caused b a lo"er than normal number of red blood cells or not enough hemoglobin in the red blood cells. *(er(ie" )ormal hemoglobin% also called hemoglobin A% has four protein chains+t"o alpha globin and t"o beta globin. The t"o ma,or t pes of thalassemia% alpha and beta% are named after defects in these protein chains. -our genes (t"o from each parent) are needed to ma!e enough alpha globin protein chains. Alpha thalassemia trait occurs if one or t"o of the four genes are missing. If more than t"o genes are missing% moderate to se(ere anemia occurs. The most se(ere form of alpha thalassemia is called alpha thalassemia ma,or or h drops fetalis. .abies "ho ha(e this disorder usuall die before or shortl after birth. T"o genes (one from each parent) are needed to ma!e enough beta globin protein chains. .eta thalassemia occurs if one or both genes are altered. The se(erit of beta thalassemia depends on ho" much one or both genes are affected. If both genes are affected% the result is moderate to se(ere anemia. The se(ere form of beta thalassemia is !no"n as thalassemia ma,or or /oole &s anemia. Thalassemias affect males and females. The disorders occur most often among people of Italian% 0ree!% 1iddle Eastern% Southern Asian% and African descent. Se(ere forms usuall are diagnosed in earl childhood and are lifelong conditions. 2octors diagnose thalassemias using blood tests. The disorders are treated "ithblood transfusions% medicines% and other procedures. *utloo! Treatments for thalassemias ha(e impro(ed o(er the ears. 'eople "ho ha(e moderate or se(ere thalassemias are no" li(ing longer and ha(e better 3ualit of life. #o"e(er% complications from thalassemias and their treatments are fre3uent. 'eople "ho ha(e moderate or se(ere thalassemias must closel follo" their treatment plans. The need to ta!e care of themsel(es to remain as health as possible.

*ther )ames for Thalassemias

The (arious t pes of thalassemia ha(e specific names related to the se(erit of the disorder. (-or more information about the t pes of thalassemia% go to "What /auses Thalassemias?") Alpha Thalassemias Alpha thalassemia silent carrier Alpha thalassemia minor% also called alpha thalassemia trait #emoglobin # disease Alpha thalassemia ma,or% also called h drops fetalis .eta Thalassemias .eta thalassemia minor% also called beta thalassemia trait .eta thalassemia intermedia .eta thalassemia ma,or% also called /oole &s anemia or beta-4ero (56) thalassemia .eta-plus (57) thalassemia 1editerranean anemia

What /auses Thalassemias? 8our bod ma!es three t pes of blood cells9 red blood cells% "hite blood cells% and platelets (':ATE-lets). ;ed blood cells contain hemoglobin% an iron-rich protein that carries o$ gen from our lungs to all parts of our bod . #emoglobin also carries carbon dio$ide (a "aste gas) from our bod to our lungs% "here it&s e$haled. #emoglobin has t"o !inds of protein chains9 alpha globin and beta globin. If our bod doesn&t ma!e enough of these protein chains or the &re abnormal% red blood cells "on&t form correctl or carr enough o$ gen. 8our bod "on&t "or! "ell if our red blood cells don&t ma!e enough health hemoglobin. 0enes control ho" the bod ma!es hemoglobin protein chains. When these genes are missing or altered% thalassemias occur. Thalassemias are inherited disorders+that is% the &re passed from parents to children through genes. 'eople "ho inherit fault hemoglobin genes from one parent but normal genes from the other are called carriers. /arriers often ha(e no signs of illness other than mild anemia. #o"e(er% the can pass the fault genes on to their children. 'eople "ho ha(e moderate to se(ere forms of thalassemia ha(e inherited fault genes from both parents. Alpha Thalassemias 8ou need four genes (t"o from each parent) to ma!e enough alpha globin protein chains. If one or more of the genes is missing% ou&ll ha(e alpha thalassemia trait or disease. This means that our bod doesn&t ma!e enough alpha globin protein. If ou&re onl missing one gene% ou&re a "silent" carrier. This means ou "on&t ha(e an signs of illness. If ou&re missing t"o genes% ou ha(e alpha thalassemia trait (also called alpha thalassemia minor). 8ou ma ha(e mild anemia. If ou&re missing three genes% ou li!el ha(e hemoglobin # disease ("hich a blood test can detect). This form of thalassemia causes moderate to se(ere anemia. <er rarel % a bab is missing all four genes. This condition is called alpha thalassemia ma,or or h drops fetalis. .abies "ho ha(e h drops fetalis usuall die before or shortl after birth. E$ample of an Inheritance 'attern for Alpha Thalassemia

The picture sho"s one e$ample of ho" alpha thalassemia is inherited. The alpha globin genes are located on chromosome =>. A child inherits four alpha globin genes (t"o from each parent). In this e$ample% the father is missing t"o alpha globin genes and the mother is missing one alpha globin gene. Each child has a ?@ percent chance of inheriting t"o missing genes and t"o normal genes (thalassemia trait)% three missing genes and one normal gene (hemoglobin # disease)% four normal genes (no anemia)% or one missing gene and three normal genes (silent carrier). .eta Thalassemias 8ou need t"o genes (one from each parent) to ma!e enough beta globin protein chains. If one or both of these genes are altered% ou&ll ha(e beta thalassemia. This means that our bod "onAt ma!e enough beta globin protein. If ou ha(e one altered gene% ou&re a carrier. This condition is called beta thalassemia trait or beta thalassemia minor. It causes mild anemia. If both genes are altered% ou&ll ha(e beta thalassemia intermedia or beta thalassemia ma,or (also called /oole &s anemia). The intermedia form of the disorder causes moderate anemia. The ma,or form causes se(ere anemia. E$ample of an Inheritance 'attern for .eta Thalassemia

The picture sho"s one e$ample of ho" beta thalassemia is inherited. The beta globin gene is located on chromosome ==. A child inherits t"o beta globin genes (one from each parent). In this e$ample% each parent has one altered beta globin gene. Each child has a ?@ percent chance of inheriting t"o normal genes (no anemia)% a @6 percent chance of inheriting one altered gene and one normal gene (beta thalassemia trait)% or a ?@ percent chance of inheriting t"o altered genes (beta thalassemia ma,or).

It "as a usual summer da in 'esha"ar% bac! in ?66B% "hen I left m hostel to attend a lecture "hich "as scheduled for the afternoon. The uni(ersit "as at "al!ing distance% so !eeping m noteboo! abo(e m head to protect m self from the sun% I made m "a there. I "as about to enter the uni(ersit % "hen I noticed a "oman tr ing desperatel to con(ince the securit guard to allo" her onto the uni(ersit premises% "hilst repeatedl "iping s"eat off her bro" "ith the corner of her clean% star! "hite chaadar. She seemed li!e she belonged to a decent famil % "rapped in her broad chaadar% t pical to the parda traditions in the region. T"o lo(el children dressed and groomed neatl for the da % apparentl the same age as each other% "ere accompan ing her. She "as confident and started spea!ing immediatel "hen I as!ed her% CDhor!aiE Dhair da ?F (Is e(er thing alright% sister?) CI ha(e come from 1ardan% brotherE .oth of m !ids are suffering from thalassemia. I bring them here t"ice a month for a blood transfusion. The blood transfusion centre al"a s as!s for donors% as the ,ust canAt gi(e a"a blood "ithout ha(ing blood in returnF said the tormented mother. CI normall go to 'esha"ar Gni(ersit As campus loo!ing for donors. The students are (er generous and I ne(er return empt -handed. )o" the campus is closed for (acations. Since I couldnAt find an one there% I came to this uni(ersit . I ha(e alread as!ed a couple of students here but the seem to be afraid of donating blood. Will ou be able to help me or find me someone "ho can donate blood for m children? I "ill pa for their con(e ance to the blood transfusion centre and bac! to the uni(ersit .F 'erhaps% fearing that I ma ta!e her as a sophisticated beggar "ho concocts cle(er stories to bag mone she "ent on "ith the monologue% including the e$act amount she "ould pa to co(er the cab e$penses. I could clearl see that the blood transfusion "orried her and the an$iet in her e es re(ealed ho" desperatel she re3uired a donor. )e(er in m life ha(e I felt that m "orries are so meagre as compared to the ones others ha(e to suffer. Imagine to ha(e to beg people to donate blood e(er t"o "ee!sE *nl a mother "ould e(er do that for her children. I realised then% that donating blood "as the least I could do to help this "oman "ho had her fair share of "orries in life. Thus% I "a(ed to a cab passing b and as!ed the "oman to get in. We headed straight to"ards the transfusion centre "hich "as not too far from

the uni(ersit and started to ha(e a con(ersation. CTheir father "as a good man% a professor at the 'ostgraduate /ollege 1ardan. #e used to ta!e good care of themF she said. CSo "h he didnAt come "ith ou toda ?F I as!ed. C#e died last ear in a car accidentF% she said "ith practised control. I felt a "a(e of s mpath to"ards her% but realised that she ne(er as! for an H all she needed "as blood for her children. The transfusion "ent on successfull . I could the childrenAs faces glo"ing and it felt immensel satisf ing to !no" that I had the abilit to help ,ust li!e that. #er children "ould no" be safe for at least t"o more "ee!s% ,ust because of the blood I had donated. The "oman bought me some ,uice% "hich% she thought% "ould gi(e me an energ boost. *n the (erge of refusing the offer in order to pre(ent her from spending mone % I 3uic!l changed m mind and politel accepted her !ind gesture. It "ould be un!ind for me not to ha(e accepted the offer from such a bra(e lad I a strong lad in no need for s mpath . *n the "a bac!% I felt completel health . The 3uantit of blood that had left m bod "as not enough to ma!e me shi(er and fall. 8ou donAt die "hen ou donate bloodI rather our bod produces the same 3uantit of blood "ithin a fe" da s% that too% fresh blood. .lood donation isnAt something one should e(er be afraid of. Appro$imatel >%666 children are born "ith thalassemia each ear. *n this da % all I as! of ou is to feel the pain and suffering of the parents of these children. /hange is a long and slo" process and if ou one of those "ho desperatel "ants to bring something positi(e to this "orld% donate some blood. 8ou could sa(e a lifeE