Is Thalassemia  a serious health burden for India?  Thalassemia is a genetically inherited blood disorder that has one of the highest incidence rates in India, with more than 10,000 children being born with Thalassemia per year making India officially the Thalassemia capital of the world.

Parents play an integral role in determining the fate of their child, not only through their developing years but also in terms of what kind of genes they pass on. Over 10,000 children with thalassemia major are born in India per year. There is an undeniable need to focus on prevention strategies to reduce the transmission of the Thalassemia gene from parent to offspring. Living with the disease can dramatically impact the quality of life of the child and the family as we do not have an easy way of curing Thalassemia without significant risks. Bone marrow transplant is the only known cure for Thalassemia however this is not a viable option for all patients.

70% of affected patients may not be ideal candidate for bone marrow transplant due to older age or because they do not have a matched sibling. Thalassemia drastically reduces a child’s ability to function normally in society as they have to constantly be aware of their health. Children with Thalassemia can suffer from a host of health consequences such as excess iron in the body, swollen liver/spleen, hormonal deficiency, cardiac problems and weak bones among others. Not only do these children have to undergo lifelong blood transfusion therapies to make up for the lack of hemoglobin production in their bodies, they will also have to undergo treatments for Thalassemia associated disorders. It is an expensive, timeconsuming and exhausting affair to constantly be fighting for life. The number of complications as well as the financial and emotional costs increase with time. The family will also have to take extra measures to encourage psycho-social growth of the child and integrate him into society.

The reason why Thalassemia has reached such epidemic proportions is two-fold. People earlier were either unaware about how the disease is transmitted and unwittingly bore a child with Thalassemia or they were aware of the possibilities of producing a child with Thalassemia and did not consciously consider the impact of the disorder on the quality of life of the child.

The custom of marrying among relatives has also contributed to increased incidence of many genetic diseases in India including Thalassemia. The carrier status of thalassemia can be very easily established by a simple and non-expensive test known as haemoglobin electrophoresis which is widely available. Developed countries such as Italy where thalassemia was once very common have virtually eliminated thalassemia form their country by raising awareness and by making thalassemia carrier state screening mandatory.

An individual can either be a carrier of the Thalassemia gene or a Thalassemia patient. We all have two genes representing the genetic code for production of beta globin protein, absence of this protein leads to beta-thalassemia. Individuals where only one of the two genes are defective are carriers of Thalassemia gene. They are not affected clinically but remain as silent carriers and are also known as Thalassemia minor. When two individuals who have the Thalassemia gene produce an offspring, there is a high likelihood that the child will be born with Thalassemia major (where both the gene copies are defective) – which is the most severe form of the disorder and requires lifelong treatment. A subset are affected with slightly less severe form of the disease called Thalassemia intermedia which deals a softer blow on the child’s health, but the child will still suffer from anemia, weakness and potential liver/spleen dysfunction or failure before eventually may end up having regular blood transfusions and severity is very variable among the intermedia group.

While it is clear that living with the disease greatly impacts the quality of a patient’s life, there are also roadblocks in terms of accessibility and costs of treatment. The benefits of tackling the disease at its roots far outweigh the pains of having to live with the disease. Here is where pre-marital screening and counseling contributes greatly to help couples make educated choices when it is time to conceive. Even if both partners are carriers still the Thalassemia can be prevented by special tests on the fetus during early pregnancy. The government in India must make efforts to introduce pre-marital genetic counseling and screening for Thalassemia mandatory for all couples and ensure basic knowledge about inherited genetic disorders are part of school curriculum. The onus is also on doctors to educate their patients about thalassemia on how the disease spreads and how the patient can make educated choices when/if they choose to have children in the future.

Dr. Stalin Ramprakash
Consultant, Paediatric Haematology, Oncology & BMT
Aster CMI Hospital, Hebbal,
Bengaluru- 560092
Ph: 080-43420100

The post Thalassemia- A serious health burden for India!? appeared first on Health Vision.

Thalassemia is a serious health burden with India – reports claim that we have more than 1 lakh people with Thalassemia major undergoing treatment and more than 4 crore people being carriers of the Thalassemia gene in India. Thalassemia is purely a genetically transmitted disease, with Mother’s Day (May12) just around the corner, it is advisable to those who want to enter motherhood to opt for genetic testing and counseling to understand what health risks, if any, they may be passing on to their child and how to make a conscious choice when planning for a baby.

Parents play an integral role in determining the fate of their child, not only through their developing years but also in terms of what kind of genes they pass on. Over 10,000 children with thalassemia major are born in India per year. There is an undeniable need to focus on prevention strategies to reduce the transmission of the Thalassemia gene from parent to offspring. Living with the disease can dramatically impact the quality of life of the child and the family as we do not have an easy way of curing Thalassemia without significant risks. Bone marrow transplant is the only known cure for Thalassemia however this is not a viable option for all patients. 70% of affected patients may not be ideal candidate for bone marrow transplant due to older age or because they do not have a matched sibling.

Thalassemia drastically reduces a child’s ability to function normally in society as they have to constantly be aware of their health. Children with Thalassemia can suffer from a host of health consequences such as excess iron in the body, swollen liver/spleen, hormonal deficiency, cardiac problems and weak bones among others. Not only do these children have to undergo lifelong blood transfusion therapies to make up for the lack of hemoglobin production in their bodies, they will also have to undergo treatments for Thalassemia associated disorders. It is an expensive, time-consuming and exhausting affair to constantly be fighting for your life. The number complications as well as with the financial and emotional costs only increase with time. The family will also have to take extra measures to encourage psycho-social growth of the child and integrate him into society.

The reason why Thalassemia has reached such epidemic proportions is two-fold. People earlier were either unaware about how the disease is transmitted and unwittingly bore a child with Thalassemia or they were aware of the possibilities of producing a child with Thalassemia and did not consciously consider the impact of the disorder on the quality of life of the child. The custom of marrying among relatives has also contributed to increased incidence of many genetic diseases in India including Thalassemia. The carrier status of thalassemia can be very easily established by a simple and non-expensive test known as haemoglobin electrophoresis which is widely available. Developed countries such as Italy where thalassemia was once very common have virtually eliminated thalassemia form their country by raising awareness and by making thalassemia carrier state screening mandatory.

An individual can either be a carrier of the Thalassemia gene or a Thalassemia patient. We all have two genes representing the genetic code for production of beta globin protein, absence of this protein leads to beta-thalassemia. Individuals where only one of the two genes are defective are carriers of Thalassemia gene. They are not affected clinically but remain as silent carriers and are also known as Thalassemia minor. When two individuals who have the Thalassemia gene produce an offspring, there is a high likelihood that the child will be born with Thalassemia major (where both the gene copies are defective) – which is the most severe form of the disorder and requires lifelong treatment. A subset are affected with slightly less severe form of the disease called Thalassemia intermedia which deals a softer blow on the child’s health, but the child will still suffer from anemia, weakness and potential liver/spleen dysfunction or failure before eventually may end up having regular blood transfusions and severity is very variable among the intermedia group.

While it is clear that living with the disease greatly impacts the quality of a patient’s life, there are also roadblocks in terms of accessibility and costs of treatment. The benefits of tackling the disease at its roots far outweigh the pains of having to live with the disease. Here is where pre-marital screening and counseling contributes greatly to helping couples make educated choices when it is time to conceive. Even if both partners are carriers still the Thalassemia can be prevented by special tests on the fetus during early pregnancy. The government in India must make efforts to introduce pre-marital genetic counseling and screening for Thalassemia mandatory for all couples and ensure basic knowledge about inherited genetic disorders are part of school curriculum. The onus is also on doctors to educate their patients about thalassemia on how the disease spreads and how the patient can make educated choices when/if they choose to have children in the future.

Dr. Stalin Ramprakash,
Consultant, Paediatric Haematology,
Oncology & BMT,
Aster CMI Hospital, Hebbal, Bengaluru- 560092
Ph: 080-43420100

The post Encourage conscious motherhood with premarital genetic counselling appeared first on Health Vision.

Haemophilia is a rare genetic disease that affects the body’s ability to make blood clots, a process needed to stop bleeding. This results in people bleeding longer after an injury, bruising, and an increased risk of bleeding inside joints or the brain. April 17 is observed worldwide every year as World Haemophilia Day to increase awareness on Haemophilia and other inherited bleeding disorders.

What makes haemophilia a concern is that currently there is no cure and the disease can only be managed to improve the quality of life. Patients can present with various symptoms and not just bleeding.  Severity can vary from life-threatening, seemingly unprovoked bleeding episodes to those affected leading normal lives for many years, until a serious injury or a routine medical procedure suddenly starts off uncontrolled bleeding.

The disease is genetically transmitted from parent to the child and hence there may be a history another affected family member but in one third of cases there may not be any such history as it may be due to new mutation. Men who have inherited Haemophilia pass on the gene to their daughters, but not their sons. Women, who carry the haemophilia gene, may pass the gene on to their sons and daughters. Haemophilia is due to defective gene in the X chromosome. As women have two X chromosome they are not generally affected and can act as carriers. On the other hand as men have only one X chromosome if they get the defective gene they are affected.  India has the second highest number of Haemophilia patients in the world according to the World Federation of Haemophilia (WFH) and a good percentage of them remain undetected and undiagnosed. India has around 17,000 Haemophiliacs according to the Federation. Being a rare disease, many Haemophiliacs don’t know they are suffering from the disease since childhood. It is therefore important to spread awareness about the disease as well as educate new couples who might produce a child with haemophilia without realizing it. A couple entering into marriage with plans of bearing children must undergo premarital genetic testing to gauge the risks of delivering a child with Haemophilia, if there is family history of bleeding disorder. Accordingly the couple can make well informed family planning choices.

Women, who know they are carriers, or might be carriers, may have options for prenatal diagnosis to obtain information on foetal status. If foetus is affected the family can then decide whether to continue with the pregnancy or proceed to a medical termination. Many a times the choices are not offered to the family in time to make a meaningful interventions. If a mother is known to be a carrier a haematologist should be involved in supervision of pregnancy as part of the multidisciplinary team along with the obstetrician well before delivery. There has to be a written birth plan in place for delivery after discussing with the family advantages and disadvantages of normal delivery vs caesarean section and neonatal team needs to be involved in birth plan to ensure safety of mother and the baby. The plan should also clarify what should happen if the mother goes into labour early.  After delivery, a cord blood sample will be used to check if a male baby has Haemophilia.

Symptoms

There are various symptoms such as pain or swelling in joints, excessive bleeding, blood in urine or stool, heavy or prolonged periods, nose bleeds or internal bleeding. Mostly the disease is detected when a person bleeds for a long time after an injury. The disorder is sometimes fatal due to late referrals and this is because of the lack of awareness of the disorder. In a known patient the bleeding symptoms can be managed using Anti Haemophilia Factors (AHFs). During first presentation as emergency treatment doctors may use fresh frozen plasma and Cryoprecipitates which are generally stored in most major hospitals.

General Precautions

There are some general precautions that one should take if one is afflicted with Haemophilia. Some of them are:

• Exercise: Exercise helps strengthen muscles, improve concentration and coordination. Haemophiliacs can be involved in swimming, cycling, walking as these are considered healthy for them. The degree of intensity which is safe will vary between patients and hence take advice from your haematologist.
• Take care of joints: Haemophiliacs bleed both externally or internally, which can injure the knee, ankle and elbow joints. Continuous bleeding in these areas can damage cartilage and the bones in the joint and cause chronic arthritis and disability. Caring for these by regular exercise and check-ups can help Haemophiliacs stay fit.
• Precautions for travel: If a Haemophilia patient travels, it is crucial to understand whether the place they are going to has appropriate clinics, good supply of prescribed drugs or they need to ensure they carry adequate supply of prescribed and the right documents supporting them.

With advanced treatments available now, the disease can be treated, though there may not be a permanent cure at least in the near future. We recently came across a 4-year-old boy who had been to multiple doctors with episodes of joint swelling affecting various joints at different times attended our clinic. Only clue in history was that there was one episode of prolonged bleeding after he bit his tongue one year earlier. Based on that history we investigated him and confirmed the diagnosis of haemophilia. He was started on appropriate treatment and his life changed for the better.

 The disease can be managed with close supervision, adequate care, patient education. The access to AHFs and affordability is crucial. In some states in India full AHFs support is available though the supply is not always consistent. Support groups for haemophilia has contributed greatly to creating awareness amongst patients and organizing treatment centres. Dedicated training in Haemophilia management for medical professionals seeking expertise in this area, encouraging clinical research to provide affordable care and commitment from health care authorities are crucial to ensure those affected with haemophilia live a productive and wholesome life.

Dr. Stalin Ramprakash,
Consultant, Paediatric Haematology,
Oncology & BMT,
Aster CMI Hospital, Hebbal,  Bengaluru- 560092

Ph: 080-43420100

The post Haemophilia: How increased awareness can limit the spread of the disease appeared first on Health Vision.