It is estimated that about 10000-15000 children are born with thalassemia in India slowly moving our country becoming the capital of thalassemia cases. It is predicted that in the next 20 years, about 900,000 patients with thalassemia will be born in the world, with 95% of them being in Asia especially in India and Middle East.

Depending on the genes involved the disorder can be categorised into alpha thalassemia, beta  or delta thalassemia. Of these, beta thalassemia is the most severe form also known as “Cooley’s anemia” which requires lifelong blood transfusions.

How is thalassemia inherited?

It is passed on from the parents to children through genes one from each parent (genes occur in pairs with one gene inherited from father and other from mother). It is inherited in an autosomal recessive manner i.e. two defective alleles (genes) are required for the disease condition to be expressed. An individual carrying only one defective gene is said to be carrier/trait/minor and an individual with two defective genes is called thalassemia major.

If both the parents are carriers then there is a 25% chance that the child may be normal, 50% that the child will be a carrier and 25% chance that the child may be patient or thalassemia major. Thalassemia carriers are asymptomatic with mild or no anemia. However, their haemoglobin levels may reduce under stress due to puberty, pregnancy or infection and may require treatment. They may have iron deficiency and may require treatment with iron supplements.

Signs and symptoms 

Thalassemia major children do not show signs or symptoms in their infancy and cannot be diagnosed clinically or with routine diagnostic tests. Around 90-95% thalassemia majors start showing symptoms within 3-24 months. They present with persistent and progressive pallor (pale appearance), poor appetite, weakness, lethargy and delayed milestones. On examination they will have anemia of moderate to severe degree along with enlarged liver and spleen. Children diagnosed at later age have typical thalassemia facial features (frontal bossing, prominence of of facial bones, forward protrusion of upper teeth, and depression of nasal bridge). Inadequately transfused thalassemia major also show similar symptoms.

How to diagnose a thalassemia major child?

If there is any suspicion of thalassemia in a child, then the following investigations have to be done to confirm the diagnosis:

Complete Blood Count (CBC): CBC using an automated cell counter will reveal haemoglobin (Hb) level <7 gms/dl, WBC counts mildly elevated, MCH (Mean Corpuscular Hemoglobin) and MCV (Mean CorpuscularVolume) reduced and MCHC (Mean Corpuscular Hemoglobin Concentration) will be normal.

Peripheral blood shows microcytic hypochromic picture along with anisocytosis, poikilocytosis, broken red cells and target cells. Large number of nucleated RBC’s will be seen.

High Performance Liquid Chromatography (HPLC): Hemoglobins are of three types depending on the stage at which they are expressed – HbA, HbA2 and HbF. In thalassemia major, Hb electrophoresis or Hb HPLC will reveal HbF 70-99%.

Biochemical Tests: Unconjugated bilirubin may be high. Serum iron, transferrin saturation and serum ferritin may be normal in early infants but are elevated if the diagnosis is delayed.

DNA Testing: DNA analysis detects the type of mutation/defect in the beta globin gene causing thalassemia major. More than 250 changes have been reported to be causing the disease.

All these tests should be done before putting them on transfusion to rule out whether it is thalassemia or other causes including iron deficiency anemia.

An Early Diagnosis can reduce the mortality among the children affected with this disorder.

Dr. Padma G
Research Scientist, TSCS
Co-authored
Dr. Suman Jain
Chief Medical Research officer and Secretary
TSCS- Thalassemia and sickle cell society, Hyderabad

The post Thalassemia disorder: How it is inherited from Parents to Children appeared first on Health Vision.

Blood disorders and cancers, especially in children can be fatal if not managed properly. They can cause blood not to have adequate number of cells, platelets, proteins, or nutrients which interferes with their function. Thalassemia, Sickle cell disease and childhood leukaemia (or blood cancer) are some of the challenging and not that uncommon blood-related disorders that are known to affect children. India has the third highest number of blood cancer cases, preceded by US and China. Leukaemia in children is a growing burden and a serious concern. It needs to be treated on time to help the patient survive and prolong his life.

Childhood Leukaemia and Bone Marrow Transplant

Childhood leukaemia is the most common type of cancer found in children and young adults where abnormal white blood cells are formed in the bone marrow. The abnormal cancer cells replace the normal red blood cells, White blood cells and platelets and cause various problems. Anaemia, Bleeding risk and decreased immunity leading to increased risk of infection are some of the consequences. Leukaemia is a type of cancer that originates in the blood-forming tissue or the bone marrow or in the immune system cells.

The treatment options for childhood leukaemia depend on the diagnosis. Usually, most Leukaemia can be managed with Chemotherapy and supportive care with blood and platelets transfusion, antibiotics for managing infections. However, some high risk or recurrent Leukaemia can be cured only with innovative therapies like bone marrow transplant. The chances of survival and cure are better in certain subgroups of leukaemia.

A bone marrow transplant is required when the bone marrow ceases to function and does not produce enough healthy blood cells. A bone marrow transplant is not a surgery. It is a medical procedure which requires expertise and dedicated teamwork. It is performed only in centres who have trained Doctors and Nurses and other support staff. It is also called Stem cell transplant or Hematopoietic stem cell transplant.  There are two basic types of BMT, Autologous and Allogeneic.

1. Autologous BMT is a procedure where in patient’s own stem cells are given after high dose chemotherapy as a rescue. This procedure is useful in many solid tumours especially high risk and relapsed and in Lymphomas.

2. Allogeneic BMT is a procedure where in stem cells are given from a healthy donor.

The donors must be HLA matched (done on blood tests or saliva sample to match antigens and check for compatibility. Donor could be siblings, family members, or unrelated donors from the registries. The source of stem cells could be Bone marrow or peripheral blood stem cells or cord blood. Allogeneic BMT is curative in much difficult and relapsed Leukaemia and is an important curative option for Thalassemia and sickle cell disease.

Initially medicines are giving called Conditioning chemotherapy- which basically removes the diseased marrow and creates space for the healthy marrow/stem cells. Then the healthy stem cells are given like a blood transfusion through an IV catheter. These cells flow into the bloodstream and find their way into the marrow. The type of transplant that is suitable for the child is determined after examining the overall health and the type of blood cancer the child is suffering from.

But generally, all Leukaemia where BMT is indicated, Allogeneic BMT will be required. The type of donor and the type of stem cells required will depend on the type of Leukaemia and overall health status of the child. There is no specific age group required as majority of the times the Leukaemia who need BMT are very aggressive and we need to do BMT as soon as it is in control. Children as young as few months to adolescents, all of them can undergo BMT when indicated.

Also Read: Blood cancer challenges faced in terms Of diagnosis and treatment In India

Preparing for Bone Marrow Transplant

Medically, the Leukaemia needs be in complete control with chemotherapy or immunotherapy before Allogeneic BMT. It is important to explain the transplant process and the reason behind it to the child as per the age and understanding of the child to help him or her deal with the anxiety surrounding the experience. They may have several questions and it is the duty of the parents and the doctors to respond to them honestly and carefully. They might fear the problems associated with the process, if they must stop going to school or doing their normal activities, and their changing physical image (loss of hair and weight).

1. Encourage the child to ask as many questions as he or she has, and answer those using words they understand and relate to.

2. Reassure the child about getting cured and living a healthy life, rather than confusing them about the complications that may arise later.

3. Maintain the daily routine and spend quality time with them and avoid revealing anxieties that the parents go through.

In must be noted that during or after the procedure is over, it may cause certain serious complications. These are largely dependent on the type of disease being treated for, medications given, age of the child and overall health conditions, the type of bone marrow transplant and difference in the tissue match between the recipient and the donor. Some of the possible complications are infections, mucositis, nutrition issues, blood and platelet requirements, diarrhoea, vomiting, skin problems, problems with important organs like liver, heart or kidneys, fluid overload, graft failure and Graft-versus-host disease (GVHD – when the recipients’ healthy cells are attacked by the donor’s immune cells). Many of these complications can be prevented, anticipated, and decreased to a large extent with the current standard of care in experienced centres.

Since BMT is not a surgery and involves only changing the blood through the recipient’s arms and transporting it to the bone marrow, it is important to create a larger donor pool and spread awareness about making bone marrow transplant available and accessible to people in our country and address the demand and supply gap. Only 25-30% of patients will have HLA matched sibling donors and another few matched family donors. In those cases, where no matched family donors are available, the next best options are HLA matched unrelated donors from the registries and or haplo donors (half matched) from the family.

It is important to strengthen the donor pool with more and more voluntary people registering with the BMT registries and when they are matched with a patient requiring BMT, getting them motivated to come forward for stem cell donation. Stem cell donation either from Bone marrow or peripheral blood is completely safe for the healthy donors. It is also essential to have a large database of public cord blood bank where in Umbilical cords can be stored. And when these cords are matched with a patient needing BMT, they can be utilized. With cancer outrunning cardiovascular diseases as the leading cause of death globally, it is important to raise awareness to encourage stem cell donation.

Dr Intezar Mehdi

Consultant Paediatric Haematologist, Oncologist and BMT

HCG Cancer Hospital Bengaluru

The post Bone Marrow Transplant to treat challenging childhood Leukaemia appeared first on Health Vision.

• As per NACO data, states of Gujarat, Maharashtra, Kerala and Tamil Nadu rank very high in voluntary blood donations
• Speakers highlight lack of clarity about the inclusion of thalassemia patients in the Rights of a Person with Disability Bill, 2016
• Government is analysing reasons for gap in voluntary blood donations in many states.

New Delhi, 4 December, 2020: The Associated Chambers of Commerce and Industry of India (ASSOCHAM), one of the apex trade associations of India concluded the twelfth edition of the ‘Illness to Wellness’ series themed Importance of Blood Donation & Managing Wellness of People with Thalassemia on the occasion of International Day of Persons with Disabilities. The event saw an expert panel of Thalassemia specialists hold an informative dialogue on hindrances faced by Thalassemia patients and blood centers during COVID-19, inclusion of Thalassemia in the Disabilities Act, 2016 and blood donation awareness in India.

Supported by the hygiene brand SAVLON, the program which promotes healthy living with a focus on wellness and preventive health through healthy habits, diet, exercise, and holistic health saw the veteran speakers discuss at lengththe distress blood centers faced due to lack of donors during the lockdown.

Commenting on the efforts made by authorities to encourage blood donations during the lockdown,Dr. Sunil Gupta, Addl. DGHS, NACO and Director (National Blood Transfusion Council) said, “The scare that was initially present in the minds of the staff at the blood center was removed through proper sanitization measures, social distancing and methodical way of blood collection via prior appointments. Donors initially faced movement restrictions, for which certificates were issued for them. We also had more than 30 mobile blood collection vans to reach out to communities and societies. By end of July there was a significant improvement in blood collection from the bleak scenario in March end and April. Now our collection is almost close to that of pre-COVID times.”

He also emphasized on the need to change mindsets through awareness about voluntary donation of blood. “As per data of NACO, currently, 70% of blood donations are voluntary. Some states such as Gujarat, Maharashtra, Kerala and Tamil Nadu are particularly very active in voluntary blood donations. At the same time, some states are lagging and there is a huge gap. We are trying to analyze why this gap exists in the same country and have realized that it has to do with the prevailing culture of the state and the mindset of the population. There is a need to change mindsets,” he said.

Dr. Amita Mahajan, Senior Consultant Pediatric Hematology & Oncology Indraprastha Apollo Hospitals, Delhi elaborating on overcoming hindrances faced by hospitals and blood centres during COVID lockdown said, “The pandemic has been both a challenge and a unique opportunity to look for productive pathways. We have been able to come up with solutions that will be present with us beyond the pandemic. During the pandemic, patients were scared to come to the hospital and donors were also scared of contracting COVID from hospitals. It was also not possible to hold blood donation camps as maintaining social distance would become difficult. To resolve these, at the hospital we made separate entries and exits for voluntary donors. We issued special movement passes to donors and reached out to previous donors and assured them of safety during donation.”

Highlighting the need for sensitizing people about voluntary blood donations and how it helps patients of blood disorders, Mr. Anil Rajput, Chairman, ASSOCHAM CSR Council, said “There are multiple challenges being faced by thalassemic patients in the wake of this pandemic. Considering the ongoing COVID-19 pandemic, there is an urgent need to sensitize the importance of voluntary blood donation which can help patients suffering from blood disorders as well as in emergency cases. In our country, 2 million people suffer from thalassemia and many other disabilities. Blood donation and transfusion are crucial to the essential services especially for these patients.”

Stressing on the lack of awareness of thalassemia and clarity on the inclusion of its patients in the list of disabilities under The Rights of Persons with Disabilities Act, 2016, Mr. Deepak Chopra, Founder & President, Thalassemics India, said, “The primary reason why Thalassemia patients have not received enough benefits from the act is due to inadequate awareness. When the act unfolds itself, only then will those who are supposed to get benefits from it can knock at the right doors. We are yet to understand the provisions of the act so there is a need to delvemore. There are not many interfaces known to patients as to how and to whom they should present their issues. As far as the act is concerned, it is yet to reach out to patients.”

Dr. Pawan Kumar Singh, Head of Oncology, Organ Transplant, Hematology, Hematopoietic Stem Cell Transplant department, Artemis Hospitals, Shri Rajesh Mittal, Founder & Chairman, Alamak Capital Advisors, CSR Chair (2020-21), Rotary District 3011, Mr. George Constantinou, Thalassemia Patient &Board Member, Thalassemia International Federation, Mr. ChethanManchegowda, Founder, Khoon, and Ms. Anubha Taneja Mukherjee, Legal & Policy Advocacy Professional; Member Secretary, Thalassemia, Patients Advocacy Group (TPAG), were other distinguished speakers and panelists were present who significantly reiterated on the substantial need of volunteer blood donation to manage wellness of people with Thalassemia.

The post Voluntary blood donations back to pre-Covid levels appeared first on Health Vision.

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.

The post Thalassemia: Healthy Choices for People Living with Thalassemia appeared first on Health Vision.