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Living with thalessaemia major

She was diagnosed with thalassaemia major – a serious blood disorder – when she was just four months old. Now baby Shaheera’s parents Faheem and Beenish are doing everything they can to save her life – and demand a law in their home country that requires premarital genetic screening to help prevent children from being born withthis terrible condition

Image Credit: Dennis. B Mallari/ANM
Faheem and Beenish are doing everything Shaheera's life.

She kicks. She screams. She calls out for her mother and sobs so loudly that her father struggles to hold her in his arms. Little Shaheera Sultan’s body convulses with her cries and her shrieks become so high and pleading that her worried parents are soon sobbing too. Mum Beenish tries to wipe her 14-month-old baby’s tears first, then her own, but nothing will console Shaheera. Sadly, she’s not throwing a tantrum because she has lost her favourite doll or wants her feeding bottle; she is afraid of the pair of nurses who have just approached her in the paediatric ward of Dubai’s Al Baraha Hospital to find a vein on her fragile anaemic body.

Shaheera has thalassaemia major – a genetic blood disorder – and needs a blood transfusion every four weeks. The baby is too young to understand that the nurses are there to help her. All she knows is that when they struggle to locate a vein on her wrist, they move on to her legs, and if they can’t find a suitable one, blood is transfused through a vein in her head. It’s an emotional ordeal and her parents have to brace themselves for it each time.

“I have questioned God many times as to why us? Why did our only child have to suffer this fate?” says her father, Faheem. “I cannot bear this, I wish I could do something to avoid this, but she needs this to survive.” Shaheera’s sobs grow louder over the next 30 minutes while the nurses get a vein to appear on her wrist and insert a catheter, which they tape into place.

“Shaheera is such a gentle and sweet and happy child who smiles all the time,” Beenish, 30, says tearfully. “It breaks my heart to see her sobbing like this.” She takes her daughter in her arms and rocks her to sleep. Shaheera desperately needs rest before the four-hour long blood transfusion she will endure in a couple of hours.

For Shaheera, spending an entire day with needles poked in her terrifies her, but for her parents this is the only way to keep her alive.

Shaheera has a problem with the production of haemoglobin in her red blood cells, which means there aren’t enough to transport oxygen throughout her body. The transfusion will stabilise her haemoglobin levels.

In a healthy person the haemoglobin level is about 12-14 gm/dl. But in a thalassaemia major patient it keeps falling and anything below 4.5 gm/dl can be fatal. When she arrives at the hospital, Shaheera’s level is 9gm/dl, and after the transfusion, it goes back to 12. The effects don’t last however.

By the third week she begins to look pale again, loses her appetite, becomes listless and before the end of the fourth week she is back in the hospital needing yet another blood transfusion.

So far Shaheera has undergone eight transfusions and will need one every month for the rest of her life unless something miraculous happens. Her parents are hoping she can have a bone marrow transplant, which is successful in about 80-90 per cent of cases if the donor is a 100 per cent match with the patient.

We didn’t understand what was wrong’

Shaheera is an only child. Prior to her birth, the Sultans were completely oblivious to the existence of the genetic condition. “I come from Rawalpindi, near Islamabad, Pakistan, and I married my maternal uncle’s daughter, Beenish, in December 2009,” says Faheem 35, who works in the collections department of a finance company in Sharjah.

“My older brother is married to Beenish’s older sister and they have three children and no one has exhibited any signs of thalassaemia. On either of our sides we do not have a single case of thalassaemia major and so we didn’t understand what was wrong.”
Shaheera was born two years into the couple’s marriage on June 21, 2011, and seemed a healthy, bonny baby. “But four months later we suspected something was wrong as Shaheera looked pale, and her weight was very low compared to other children her age, even though she was feeding properly,” recalls Beenish. When the Sultans took Shaheera to the hospital in Sharjah and her blood was tested, her haemoglobin stood at 4.5gm/dl – most cardiac arrests happen at 4gm/dl. She was given a blood transfusion, but tested positive for thalassaemia major.

Since it’s an inherited genetic condition, Faheem and Beenish were tested too. Both tested positive for thalassaemia minor. This means they both are carriers and each have one defective gene. The news not only devastated the family emotionally but financially as well. “That one single blood transfusion cost me Dh3,000 and the doctors were telling me my child would require one transfusion every month,” says Faheem. “I was heartbroken to know about my child’s condition and had no idea how I would support this on a meagre salary of Dh6,000.”

Faheem visited the Emirates Thalassaemia Society that was already overwhelmed with 420 patients who were registered for blood transfusions every month – more than it could handle. Faheem was directed to Al Baraha hospital and there he was given a health card that allows Shaheera free blood transfusions.

“The health authorities in the UAE give this to all the thalassaemia major patients,” smiles a relieved Faheem. “Where else in the world would you get that?”
There are a few hours before Shaheera’s latest transfusion begins, so while she is sleeping, Faheem leaves her with his wife while he goes back to work for a few hours. The blood transfusion takes about four hours after which the baby is kept under observation for an hour, just in case there is a complication. There is a chance the body will reject donor blood.

Faheem returns to be with Beenish and Shaheera by 8.30pm and the family makes their way home reaching Sharjah by 10pm. It’s an exhausting day, but it’s worth it. “Shaheera is such a happy child who cannot stop smiling and chattering,” says Faheem.

“Once she is back, the change is so dramatic: She gains weight, her appetite is back and she yaps nineteen to a dozen. We feel so happy and relaxed, but we know after the third week she gets listless and cranky, and it will soon be time to visit the hospital again.”

A high incidence of thalassaemia

Thalassaemia major is on the rise globally. Also known as beta thalassaemia, or Cooley’s anaemia, thalassaemia major is an inherited blood disorder that causes the body to manufacture an abnormal form of haemoglobin, which is the protein molecule in red blood cells that carries oxygen. It results in the over-destruction of red blood cells, causing anaemia, bone deformity in the face, jaundice, shortness of breath, and eventually early death by heart failure. Incidences of thalassaemia major and minor are largely found in the Middle East and Mediterranean countries.
Patients inherit the defective gene from both parents – thalassaemia minor occurs when a person only inherits one defective gene and therefore don’t need blood transfusions. (See box on thalessaemia over the page.)

According to a World Health Organization report published in June 2008, every year there are 56,000 babies diagnosed with thalassaemia major. At least 30,000 people need regular blood transfusions to survive and 5,500 die after birth.

An added complication is the excess iron that builds up in the blood because of the transfusions and has to be removed every month through iron chelation therapy. This therapy is carried out with special drugs before it becomes trapped in the tissues of vital organs, such as the anterior pituitary, heart, liver, pancreas and joints. When the iron reaches toxic levels, it can result in diseases such as diabetes, cirrhosis, osteoarthritis, heart attacks and hormone imbalances.

According to the WHO report, about 100,000 patients are currently living with regular transfusions and at least 3,000 die annually in their teens or early 20s from uncontrolled iron overload. Dr Khawla Belhoul, Director of the Emirates Thalassaemia Society, says that approximately 600,000 people in the UAE from all nationalities are affected by thalassaemia minor. An effective programme of premarital genetic screening can warn couples who both carry the gene that there is a 25 per cent chance that their baby will be affected.

It is believed that the thalassaemia trait originally occurred in people living around the Mediterranean as it gave a degree of protection against malaria. Over time it travelled towards the Middle East and Asia. The Maldives has the highest incidence of the condition with nearly 18 per cent of people being carriers of a defective thalassaemia gene, which could be passed on if they marry someone with the defective gene.

According to Dr Erol Baysal, head of Molecular Genetics Unit at the Genetic and Thalassaemia Centre in Dubai, one in 12 people in the UAE is said to be a thalassaemia carrier – “a reasonably high rate of occurrence”. With marriages among first cousins, where the couple share a common ancestry, the chances of inherited disorders like thalassaemia increases, according to a study conducted at the Sir Ganga Ram Hospital in Lahore, Pakistan. This makes premarital screening all the more necessary. Although mandatory screening was made law here in 2005, most people are unaware of it.

Until awareness is higher, thousands of parents will have to struggle every month bringing their toddlers and teenage children to hospitals for life-saving blood transfusion.

But the Sultans are determined to cure their daughter of this condition. The only cure so far is a bone marrow transplant. “I am not going to give up on her,” says Faheem. “I have researched a lot on the condition and have written to all doctors around the world. I will work hard to get Shaheera a new lease of life.”

Encouraged by the cooperative attitude of doctors and nurses, Faheem learnt about a slim chance of freeing his daughter from this condition by a bone marrow transplant. The surgery is complicated and successful only in a limited number of cases. Shaheera is lucky to have a 100 per cent donor match in her mother. “I will do anything to save Shaheera,” says Beenish. “They tell me the surgery is painful. People are willing to donate organs and blood to complete strangers. Why wouldn’t I do it for my own daughter?”

A ray of hope

The family is now searching for a hospital where the surgery is a little more affordable. Faheem began furiously writing to all the hospitals around the world to get comparative quotes. “I contacted all bone marrow transplant hospitals in India, Pakistan, Egypt, the United States and Italy. American hospitals said the cost would be as high as $1 million (Dh3.673m); in Italy the same procedure would cost €100,000 (Dh452,000). In India the costs are $34,000 (Dh125,000) and in Pakistan the same surgery would cost around $30,000 (Dh110,000).

Some good samaritans in Sharjah have promised to help the Sultans with the cost of the surgery, and it looks like their best bet is the Army Hospital in Rawalpindi, Pakistan. Beenish will once again undergo a donor match test to reconfirm that she indeed is an ideal bone marrow donor for her daughter and then undergo a transplant evaluation.

The operation itself is said to be very tedious and painful where Shaheera will require chemotherapy to destroy her own marrow and her body will have to get used to the donor marrow. The chance of rejection cannot be ruled out. It is a risk her parents are willing to take to free her from the deadly condition.

The hospital is so booked that it will be early 2013 by the time Shaheera’s turn comes. Until then she will have to undergo at least six additional blood transfusions.

Prevention is key

It is possible to prevent the ordeal that the Sultans are currently undergoing only if they had undergone genetic screening, a test that their entire family in Pakistan has now taken to avoid the occurrence of the condition in any other child in the family.

Here in the UAE, all expatriates and nationals must undergo tests before getting married. Since many people don’t know about this, in 2011, the Ministry of Health in the UAE has launched a campaign to create more awareness. But Faheem points out that in Pakistan there are thousands of children who are born with the condition. “Our government is lagging behind in passing this legislation and every year so many children are being born with this condition,” he says.

“Now in our family, after being made aware of this, every member is undergoing genetic screening. We would never want any other child to suffer from this. Someday we will have the courage to have another child, but first we want Shaheera to be free of this condition.”


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