Random Reverbs

Scenario One: 

Three years back, when we were looking for suitable match for a friend’s niece “R” (who is a Gujarati Lohana and based in Jamnagar, Gujarat, India) and we had singled out an eligible bachelor, again a Lohana, from Harrow, U.K.: everything was more or less in place as the families were known to each other and all it needed was a nod from the prospective bride and groom. 

On an impulse we decided to ask about the Thalassemia status of the boy. (Nowadays this is mentioned even in the Bio data of potential brides and grooms in India.)

Turned out he had Thalassemia Minor, which was what “R” had too. The meeting (and of course the marriage) was hastily called off leaving both the families disappointed and frustrated. We were lucky that the families had a passing knowledge of the marriage between of two persons with Thalassemia Minor.

Scenario Two: 

When my daughter was born in 1991, we took her to Mumbai ( we live in Jamnagar, Gujarat, India) for a check up for Thalassemia, as we had a family history of Thalassemia, and we are Lohanas, a caste that is more prone to Thalassemia.  Fortunately, she did not have the trait. It’s only in the recent years that the awareness of the hereditary disease has come to light. At that time tests used to be done only in selected centers in India. Nowadays of course, the tests are done even here in Jamnagar.

Scenario Three: 

In Rajkot, in Western Gujarat, India, all girls at a popular Women’s’ College are required to produce the Thalassemia status from a laboratory before the University mark sheets are given. 

This forces them to have the test done.

Scenario Four: 

When “M” a cousin from U.K. was visiting India, I causally asked his wife “S” if she had been tested for Thalassemia, she said she had tested herself but “M” was refusing to go for the test, with a very “chalta hai” attitude.

(It’s peculiar but somehow people in India take Thalassemia more seriously than the counterparts in the west? Remember Saif Ali Khan being asked to be tested for Thalassemia by a pregnant Preity Zinta, a doctor, in this year’s Bollywood blockbuster “Salaam Namaste” based in Australia, in a similar scenario, as she was a carrier and she was unsure about her partner’s Thalassemia status? All she wanted was the safety of her child: she did not wish the child to be born with Thalassemia Major. )

Scenario Five:

A Lohana girl in Jamnagar “B” met a Jain boy “K” at a card shop and cupid struck and the two got married. The first child they bore was normal. However the second child was found to have Thalassemia Major. The child has to have blood transfusion for life: both parents had Thalassemia minor and they decided to go ahead with the second pregnancy due to religious reasons, even though they knew of the status through pre-natal tests. The parents look aged far beyond their late twenties.

Scenario Six: 

A potential groom from U.S.A. looking for a bride in Porbandar in the Saurashtra region of Gujarat was baffled when parents asked for his Thalassemia status, before allowing him to see the girl. 

(Grooms from East Africa coming to India to get married are even asked for a HIV free status. I have known of at least one groom from Nairobi, Kenya, two grooms from Mwanza, Tanzania and one from Dar-Es-Salaam marrying girls from Gujarat even though they were HIV positive, and they aware about it. One person has already succumbed to the disease and others have passed on the virus to their wives) 

Q:         Please, give it to me in plain, simple lay man’s language: What is Thalassemia? I keep on hearing about it and its prevalence in Indians and Muslims and in selected castes: what’s all the hue and cry about?

A:         When we talk of Thalassemia we generally talk of Thalassemia Major, a hereditary condition that affects the body’s ability to produce adequate hemoglobin, which is passed on to the child by Parents 

Q:         Hemoglobin? What’s that? And why should its faulty synthesis be a cause of concern?

A:         Hemoglobin is a protein in the red blood cells that is responsible for carrying oxygen and nutrients to the cells ion the body. This binding and release of oxygen to other parts of the body is important for survival and thus the importance for the Hemoglobin to function properly. All people have the same type of Hemoglobin. The gene codes are identical for people all over the world, but occasionally, alterations can take place that result in abnormal gene that will result in a modified hemoglobin that will pass on to the children. 

Many times these alterations pose no problem but sometimes they may result in blood disorders like Thalassemia.

Q:         Can I, well, “catch” Thalassemia?

A:         Not in the true sense. One can only inherit Thalassemia Major, from Parents with carriers, also called Thalassemia Minor but one cannot “catch” it say like flu or a virus. The severity will depend on the type if genes inherited from the parents.

Q:         How do I know if I have Thalassemia Minor?

A:         Simple! An inexpensive blood test is all that is needed. Smaller laboratories in smaller cities also arrange for the tests to be done at bigger centers. Speak to your doctor and he/she will guide you.

Q:         So why is Thalassemia then, considered a life threatening disease?

A:         Actually, let us clear some misconceptions at this stage. As mentioned before, it is Thalassemia Major that is a cause of concern. And this takes when a set of select circumstances come to play. Let’s say two people meet. One has Thalassemia Minor and one does not have the disorder. No problem.

Now even when two people have Thalassemia Minor there is no problem.

Only when they decide to have a child, the menace takes place: and again the chance of the child inheriting the Major version increases. It could happen that the child may not inherit the disorder. So when we speak about the dangers of Thalassemia, we are actually talking about the dangers of the inheritance to the child from the parents and not the parents themselves.

Q:         Do you mean to say that my parents are to blame if I have Thalassemia Major?

A:         In a manner of speaking, certainly. If both parents are carriers of Thalassemia gene then their child has a 25% with each pregnancy of getting Thalassemia Major. The trouble is that Thalassemia minor is that it itself has no long term problems, except for a mild long term anaemia in many cases, so most people are not even aware that they are carrying the trait. So the disease is probably passed on to a child unintentionally. So it’s best that before two people marry each other (this is especially true in case of high at risk castes, mentioned later in this mail) both individuals be tested for Thalassemia. 

At the risk of repeating myself, it is important to understand that Thalassemia Minor poses no risk to the parents even if both of them have it. Its only when they decide to have a child and the hazard begins. Some castes and geographical areas are at a higher peril.

Q:         God! So if I am an Indian, am I at a bigger jeopardy than others, say a British or an American?

A:         While all populations are at risk, Thalassemia is very common in the South Asian community, and especially the Indian South Asian community. (It is theorized that Thalassemia originated from countries with malaria as a body self-defense mechanism when the Hemoglobin was modified to counter the disease. People with Thalassemia Minor are therefore less prone to Malarial attacks because of the Hemoglobin structural changes: some consolation that!) 

Seven percent of the world’s population are carriers and every year 4,00,000 affected babies are born every year, with the numbers expected to double in the next few decades. It is the world’s most common blood genetic disorder. 

Apart from Indians, Italians, Greek, Middle Eastern, African ancestry, (Thalassemia is derived from two Greek words: Thalassa meaning the “Sea” as it was common to people living near the Mediterranean Sea and Haima meaning “blood”) India has the highest pool as every eighth Indian is a carrier. 

While all Indians are prone, the castes that are more affected are the Gujaratis (especially Lohanas and Bhanushalis) Punjabis, Sindhis, Parsis and Muslims. 

While the disease is rare in the south belt, it is more common in the states of Punjab, Bengal, Rajasthan, Delhi, Gujarat, Maharshtra and Orissa. The Gujarati Lohanas and the Sindhis have a higher than normal rate at around 14% and 13 % respectively, and these two castes should be tested for Thalassemia at the first available opportunity, without exception and in no cases should two persons of the same caste or a combination of the above mentioned castes be married without being tested for Thalassemia. 

This is not to undermine the importance of the simple test for the disorder for other castes. Ideally it should be carried out at the first available opportunity (I got my daughter Bhavika tested at the age of four) since the test is very unproblematic.

Q:         So, can Thalassemia Major be prevented or cured once it is diagnosed?

A:         No, Thalassemia Major is an irreversible and a fatal disease and so the importance of the diagnosis in the traits of the parents, and its recognition and prevention of the birth of that child. Below given diagram represents the 'chance' to fall into a Thalassemia Major category.

A classic case where the disease can be identified and prevented easily in advance, which if ignored can lead to a catastrophic situation if it does take place.

The treatment is multifaceted, intricate and expensive and beyond most families’ reach at least in India and developing countries. 

Not only that, even with blood transfusion (a mainstay in Thalassemia’s treatment) and treatment, it is rare that the patient will survive beyond thirty years.

In India since many marriages are arranged, one has the luxury of asking the prospective partners the status of the Thalassemia, and the option of not proceeding further if both have the traits. If both individuals fall in love and marry, well, and if both happen to have Thalassemia minor, there is not much one can do. One cannot prevent marriage in a love story. I mean, one does not ask for a person’s Thalassemia status before falling in love.

Q:         What is the worst case scenario if just one parent is a carrier?

A:         No problem at all. The child at the most has a 50% chance of being a “carrier” and most carriers’ live healthy normal lives, sometimes, without even an indication of the disorder.

Q:         So let’s say both parents have the trait and the chose to marry, what should the couple do in such circumstances? Is the only option not to have a child?

A:         What the couple can do is to plan the pregnancy. Before ten weeks, pre-natal tests can be done to determine if the child is going to have Thalassemia Major. If the test is positive one should abort the child. Obviously, the pregnancy can be continued if the child is normal. If for some reason, ( religious or sentimental) if the couple opts for keeping the child if the child has the disease, they will be straddled with a life long blood transfusion for the child, and the disease is terminal.  Not much of a choice here, is there?

It is the doctor’s duty to explain the situation to the parents, and it is the parents’ duty to grasp the situation. 

Q:         So, what happens if a child is diagnosed with Thalassemia Major?

A:         Plenty: first of all, the child will need blood transfusions and antibiotics for the rest of the life. The treatment taxes the patience of the child, the doctor and also the parents, families. An extensive life-long medical care is needed to prevent the child from succumbing to the complications.

Initially, the child will be normal until the age of about a year, after which, if left untreated, the child will have loss of appetite, progressive anaemia and will be malnourished and have retarded physical growth. 

Later the child will develop problems with liver, spleen, thinning of bones (because the bone expands to compensate for the anaemia) heart failure ands infection. Repeated blood transfusions (finding the optimum levels are difficult, posing new problems) every three to four weeks (this will be for life and the number of transfusions will increase with age) will help the bring levels to an almost normal condition but the down side is an over load of iron deposits (which can a solved be treated with iron chelaters, a group of drugs that help reduce iron over load.) that gets deposited in various organs like pancreas, heart, liver, thyroid, gonads etc. resulting in their dysfunction. Thus the patient may suffer from diabetes, congestive cardiac failure, cirrhosis of liver, hypothyroidism, infertility later in life. 

Repeated blood transfusion also carries its own pitfalls and serious side effects, not to mention the compatibility and screening that should take place each time.

In a country like India (or any other developing/underdeveloped country) finding the required quantity and quality of blood can be taxing for families, having to turn to relatives and friends for the blood to keep the child alive.

Bone marrow transplant may work in some cases but has been found to be risky, and gene therapy may offer a cure in the future.

(Disclaimer: The article on Thalassemia is a brief write up and at the most, a reference guide. It is not comprehensive, nor does it contend to be. The object is to spread awareness and remove some fallacies through a non-medical language and devoid of any jargon. It is not a substitute for a doctor’s advice and care: supplementary facts should be confirmed and obtained from your Health Care Practitioner. )

Article by Dr. Sanjay H. Bhagde, MBBS; Jamnagar, India

Inputs were also taken from Dr. Dipak H. Bhagde, MD DGO; Consulting Obstetrician and Gynecologist, Ex Head of Department of Gynecology and Obstetrics, MP Shah Medical College, Jamnagar and Dr. Y.K. Oza, MD; Consulting Physician and Ex-Head of Medicine Department of The M P Shah Medical College, Jamnagar

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