India may receive first-ever thalassaemia medicine

• Himani Chandna, Hindustan Times, New Delhi
| 
• Updated: Sep 16, 2015 23:51 IST

Over 30 million people in India, who are affected by thalassaemia, may soon get a first-ever drug that treats the genetic blood disorder.

Paris-based multinational pharmaceutical company, Sanofi, is working on a drug which aims to boost production of red blood cells and reduces the dependency of patient on blood transfusions and may involve India in the drug’s clinical trials, which are tests done on patients to establish a drug’s efficacy. These trials can take a few years to show results.

“Sanofi Genzyme is working on thalassaemia in alliance with another company close to our headquarters in Cambridge in Massachusetts, and together we are studying new therapeutics,” Carlo Incerti, managing director, senior vice-president and head of global medical affairs, Genzyme, an arm of Sanofi, told HT.

“We probably could initiate clinical trials in the next couple of years and when this will happen, India will be a potential country to be involved in the clinical trials because of the number of the patients and the knowledge of the disease,” Incerti said.

The company plans to study the effect of drug depending on the intensity of disease — from major to intermediate to minor. “In the thalassaemia study what we are going to study is the reduction in the transfusion demand by boosting the life or production of red blood cells,” Incerti said.

If such a drug is invented it could be a major breakthrough, said experts. “It will be a revolution in the treatment of thalassaemia,” said JS Arora, general secretary, National Thalassaemia Welfare Society.

“In India, 10,000 to 12,000 thalassaemia major children are born every year and there are over 100,000 thalassaemia major children who require regular blood transfusion.”

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Thalassemia major is an inherited form of hemolytic anemia, characterized by red blood cell (hemoglobin) production abnormalities. This is the most severe form of anemia, and the oxygen depletion in the body becomes apparent within the first 6 months of life. If left untreated, death usually results within a few years. Note the small, pale (hypochromic), abnormally-shaped red blood cells associated with thalassemia major. The darker cells likely represent normal RBCs from a blood transfusion.

Thalassemia minor is an inherited form of hemolytic anemia that is less severe than thalassemia major. This blood smear from an individual with thalassemia shows small (microcytic), pale (hypochromic), variously-shaped (poikilocytosis) red blood cells. These small red blood cells (RBCs) are able to carry less oxygen than normal RBCs.

Extract from Health All Refer.com
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What is Thalassemia Major

The severe form of Thalassemia, Thalassemia major, occurs when a child inherits two mutated genes, one from each parent. Children born with Thalassemia major usually develop the symptoms of severe anemia within the first year of life. They lack the ability to produce normal adult hemoglobin (red blood cells). Children with Thalassemia major are so chronically fatigued they fail to thrive and do not grow normally. Left untreated, this disorder will cause bone deformities and eventually will lead to death within the first decade of the child’s life.

The only treatments that are provided to patients are regular transfusions of red blood cells. Thalassemia major patients require transfusions of red blood cells, every 4 to 6 weeks depending on the individual’s consumption of the infused cells. The complication that results from constant blood transfusions is iron overload, also known as secondary hemochromatosis. Once iron is stored in the organs, it will eventually lead to organ failure and will lead to death.

Iron is a component of hemoglobin, essential to the body, but once red blood cells break down the excess iron cannot be removed, resulting in the absorption of too much iron in the body. It is necessary that this excess iron be removed because it stores in the vital organs of the body, such as the heart and liver. Fortunately, a drug called Desferrioxamine (Desferal) is designed to remove the excess iron from the thalassemic patient.

Although, Desferal has significantly changed the prognosis of patients with Thalassemia major, many of the patients find the nightly 10-12 hour infusions of Desferal tedious, have difficulty with compliance, and find the pump-injected medication painful. Currently, this is the only treatment available to Thalassemia patients, a cure needs to be found.

http://www.thalassemia.ca/
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