IntroductionThalassemia is the most common inherited single gene disorder in the world. The thalassemias are a diverse group of genetic blood diseases characterized by absent or decreased production of normal hemoglobin, resulting in a microcytic anemia of varying degree.
Your blood count may be a little lower than other people of your age and sex, but this produces no symptoms. You were born with this condition and you will have it all of your lifetime. There is no need for treatment and most people who have inherited this are not sick and probably do not know they have it. A mild form of Thalassemia minor may be mistaken for iron deficiency anemia. Iron medicines are not usually necessary and will not help your anemia. They could even be harmful if taken over a long period of time.
If you marry a person who does not have Thalassemia Minor, your children may have Thalassemia Minor. If you marry a person who does have Thalassemia Minor, some of your children may have Thalassemia Major. You must decide if you want to take this risk in planning your family.
Symptoms of Thalassemia MajorAn infant with Thalassemia Major appears normal at birth. If a child is well for the first five years of life, a diagnosis of Thalassemia Major is unlikely. The double dose of two Thalassemia genes causes an anemia that is so severe that regular blood transfusions must be given throughout life
A newborn with Thalassemia Major appears normal at birth. As they grow, infants with Thalassemia Major exhibit paleness and fussiness. Weakness and slow growth appear in the first or second years of life. The abdomen may swell due to an enlarged liver and spleen. Changes occur in the appearance of the face and head. The eyes appear slanted and the cheekbones become prominent.
Treatment for Thalassemia MajorTreatment involves blood transfusions that must be given every 4 to 6 weeks to sustain life.
Complications that may arise from regular blood transfusions include an overload of iron build up in vital organs causing diabetes, liver disease and heart failure. The spleen may become so enlarged or overactive that it has to be removed surgically. In the past, many patients died in their teens due to these complications.
Management of thalassemia is not enough. Researchers are investigating two potentially curative treatments:
Stem Cell transplantation and gene therapy. Both methods have shown promise.
In stem cell Therapy, there are two ways to go about it.
1. Bone Marrow Transplant
2. Cord Blood Transplant
Some children with thalassemia can be cured with a bone marrow transplant. However, this form of treatment is most successful when a donor who is an exact genetic match is available. Generally, a sibling or other family member is most likely to be an exact match. The procedure can cure about 85 percent of children who have a fully matched family donor. However, only about 30 percent of children with thalassemia have a family member who is a suitable donor.
Recent studies suggest that using
umbilical cord blood from a newborn sibling may be as effective as a bone marrow transplant. Like bone marrow, cord blood contains unspecialized cells called stem cells that produce all other blood cell.
The beneficial results of stem cell transplantation from HLA identical family members for patients with severe thalassemia are clear. Class I patients have a very high probability of cure with a very low early and late morbidity and mortality. Delay of transplantation until the patient is in a risk category beyond class I substantially reduces the probability of transplant success and jeopardizes the reversibility of liver and cardiac damage. It is reasonable to suggest that patients with β-thalassemia who have HLA-identical donors should be transplanted as soon as possible.
Umbilical cord blood (UCB) has been shown to be capable of reconstituting the bone marrow of the patient with thalassemia after myeloablated pre-conditioning treatment. The major advantage of UCB over other sources of stem cells is the ability to cross HLA barriers, and there is evidence of less GVHD. The use of related – donor UCB stem cells with HLA mismatches at one to three antigens needs to be considered. It would be worthwhile to do a prospective study to evaluate the role of UCB stem cell transplantation in the treatment of the thalassemias and hemoglobinopathies.
Thalassemia is widely distributed throughout the world and is one of the major public health problems. The use of bone marrow transplantation, the only curative therapy for thalassemia, is limited because less than 30% of the patients have unaffected and HLA-identical siblings as donors. Cord blood stem cells, an alternative source of stem cells for transplantation, have been successfully transplanted into patients with several diseases after myeloablative therapy.
Testing for ThalassemiaIf a person has Thalassemia Minor, the cause of the slight anemia is known and no other blood tests or treatments such as iron are needed. More important, since individuals with Thalassemia Minor can pass the Thalassemia gene to their children, most people would like to know if there is a risk that their children could inherit this severe blood disease.
A safe and reliable prenatal test to diagnose Thalassemia Major in a fetus as early as 10-12 weeks after conception has been developed. Couples who are at risk may want to consider this possibility.
Success rate of Stem Cell Transplantation (SCT) for Thalassemia?In low-risk cases (less than 10 years of age, having regular chelation therapy, non liver enlargement and no transfusion-associated diseases like hepatitis or HIV), SCT provides a 80-90% cure probability, with 5% mortality rate and a 10% chance of rejection (thus leaving the child thalassemic).
Cost of storing Umbilical Cord BloodIn Pakistan, one Company namely Cryo Cell Pakistan, with the help of their affiliate in USA, offering collection, extraction and storing services. The normal fee was about USD. 2,000 but they are offering handsome discount on their price in the introductory period. Further details may be obtained from their website
www.Cryocell.com.pk.