All About Thalassemia

What is Thalassemia ?

The thalassemias are diverse group of genetic blood diseases characterised by absent or decreased production of normal hemoglobin, resulting in an anemia of varying degree.

Thalassemia is the most common inherited single gene disorder in the world. Scientists and public healths officials predict that thalassemia will become a worldwide issue in the next century. With global improvements in childhood disease prevention and treatment, more focus will be given to diagnosing disorders. It is our hope that by providing education about the disease we can raise awareness, encourage people to get tested for the trait, and spread knowledge about comprehensive treatment.


There are two types of thalassemias: Alpha and Beta, based on which globin chain in the hemoglobin molecule is affected. The severity of both types of thalassemia varies from a silent carrier state, where affected person carries the gene for Thalassemia without being overtly affected to most severe cases which can result in death of the baby in mother’s womb. In between are various grades of Thalassemia – Thalassemia Minor/Intermedia/Major

Alpha thalassemia—the alpha chain is affected
* Silent carrier—one gene affected
* Thalassemia trait—two genes affected
* Hemoglobin H disease—three genes affected
* Alpha hydrops fetalis—four genes affected, most severe form, results in fetal or newborn death

The Alpha Thalassemias are concentrated in South East Asia, Malaysia and Southern China. The Beta Thalassemias are seen primarily in the Mediterranean Sea area, Africa and South East asia. Due to global migration patters, there has been an increase in the incidence of thalassemia in North America in the last ten years

How Are Genes Inherited?
At the time of conception, a person receives one set of genes from the mother (egg) and a corresponding set of genes from the father (sperm). The combined effects of many genes determine some traits (hair color, and height for instance). Traits determined by a combination of genes often have gradations in magnitude (the difference between Michael Keaton and Kareem Abdul-Jabbar, for instance). Other characteristics are determined by a single gene pair (a person’s sex, for instance). A person is either a biological male or female.

The inheritance pattern is complicated in patients with thalassemia because two sets of genes on different chromosomes cooperate to produce hemoglobin. A defect anywhere in this complex can produce thalassemia. The expression of thalassemia, therefore, more closely resembles that of height, with gradations in effect.


The inheritance pattern is complicated in patients with thalassemia because two sets of genes on different chromosomes cooperate to produce hemoglobin. A defect anywhere in this complex can produce thalassemia. The expression of thalassemia, therefore, more closely resembles that of height, with gradations in effect.

globin chains

Hemoglobin molecules which carries oxygen in the body is made up of two globin chains – Alpha and Beta chains in a 1:1 ratio. Production of these globin chains is under the control of genes. In the thalassemia patient, a mutation or deletion of the genes that control globin production occurs. This leads to a decreased production of the corresponding globin chains and an abnormal hemoglobin ratio. The abnormal ratio leads to decreased synthesis of hemoglobin and the expression of thalassemia. The globin that is produced in normal amounts winds up in excess and forms red cell aggregates of inclusions. These aggregates become oxidised and damage the cell membrane, leading to excessive breakdown of red cells, ineffective production of red cells in the bone marrow, or both. The quantity and properties of these globin chain aggregates determine the characteristics and severity of the thalassemia.

What is Thalassemia Minor ?
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.


How common is Thalassemia Minor ?
About 3 – 6% of Americans of Italian and Greek descent have Thalassemia Minor. Thalassemia has also been found in people of many ethnic backgrounds, so it cannot be called a Mediterranean disease. Other areas affected are the Mid East, India, Pakistan and Southeast Asia.

  • What can you do if you have Thalassemia Trait?
    If you have thalassemia trait, you need not be concerned for your own health. However, you may be at risk of having a child with thalassemia major.
  • If your partner is tested and proved to have the normal type of hemoglobin, then no child born to the two of you can have thalassemia major.
  • If your partner does have thalassemia trait, you are at risk of having a child with thalassemia major. You can discuss the options available to you with your treating doctor.

Even if you have had children who do not have thalassemia major, you might still consider a test for your partner. If both parents have thalassemia trait, the risk of thalassemia major is the same for each pregnancy no matter how many children with normal hemoglobin or with thalassemia trait you have already had.

Wouldn’t it reassure you to know that you are free of the risk of having a child with thalassemia major?

What is Thalassemia Major ?
Thalassemia Major occurs when a person inherits two thalassemia genes, one from each parent. Thalassemia Major is a severe disease.

When BOTH parents have Thalassemia trait (Minor), the child may inherit

two normal hemoglobin genes
or one normal hemoglobin gene and one thalassemia gene
or two thalassemia genes

With EACH pregnancy there is a:


Complications from regular blood transfusions
Complications that may arise from regular blood transfusions include an overload of iron build up in vital causing diabetes, liver disease and heart
failure. The spleen may become so enlarged or overactive that it has to be remove surgically. In the past, many patients died in their teens due to these complications.


Thalassemia signs and symptoms may include:

  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine

Several types of thalassemia exist, including alpha-thalassemia, thalassemia intermedia and Cooley anemia. The signs and symptoms you experience depend on the type and severity of your condition. Some babies show signs and symptoms of thalassemia at birth, while others may develop them during the first two years of life. Some people who have only one affected hemoglobin gene don’t experience any thalassemia symptoms. (sources: Mayo Clinic. See  references below) ¹

Read more from Nusruth Ebrahim Saib testimonial 

A few years ago, a medication called deferoxamine (Desferal)  was given to Thalassemia Major patients to remove iron from the body, and it must be given by slow infusions under the skin or in a vein over 10-12 hours five to seven times a week using a battery driven pump. in many countries this is still being used.

Hopefully, there is new oral form of medication named Asunra by Novartis that are now available and which reduces the painful removal of iron. It should be dissolved (not effervescent) in water or juice and should be taken everyday. Researchers are investigating two potentially curative treatments: bone marrow transplantation and gene therapy. Both methods have shown promise.

Thalassemia Major patients require in general MONTHLY blood transfusions

As per the above video on Thalassemia and this post, without blood transfusions, thalassemia major patients will not survive. Maintaining a safe and adequate blood supply is of great importance to the general public. Because those with a severe form of thalassemia require blood transfusions as often as every two weeks/ 3 weeks, the blood supply is of special importance to the thalassemia community.

There are more than 160 Thalassemia patients who require blood transfusions in Mauritius.  With increasing life expectancy and number of thalassemic patients, the need for safe blood is increasing too, but on the other hand the numbers of donors are decreasing due to aging of donor population, decline from younger people between 18 to 35 years old (due to indifference mostly, fear of needles !!!),  infections, changing moral values, etc. And there is an important gap between demand and blood supply.

More Blood Donors Needed
We URGE Mauritians to transgress all barriers (if ever) come forward to donate blood to people like the Thalassemia patients as well as other  complex and urgent treatment like cancer, cardiac patients undergoing surgery, accident victims, gynecology, a mother giving birth and an increased number of complex therapies like chemotherapy for cancer patients as mentioned above.

Our young Mauritians often forget for how many medical procedures blood is a vital necessity.  Probably the greatest incentives are that they understand by donating blood, they are saving lives !

Thalassemia Society Mauritius with the support of sponsors has  made lives easy with the support of Ministry of Health & Quality of Life by doting  Regional Hospitals (except Flacq) with a Day Care Thalassemia Ward (JNH, Ag. Jeetoo, SSRN and recently at Victoria Hospital, Candos).

Need Voice from Thalassemia Patients:
See the Page Testimonials on this page to share your experiences, to thank blood donors and your stories. send us an email with your full name, Telephone numbers, address and where you do treatment. If you are a minor, you need your responsible party/ies permission.

Further reading/watching:
(1) Thalassemia – The Untold Story 
(2) Beta Thalassemia
(3) Thalassemia (Mayo Clinic) (References ¹)
(4) Thalassemia documentary ( WARNING:  sensitive person better not watch !)
(5) Thalassemia in Pakistan (Urdu)