The little-known disease that drains a third of southeast Asia’s blood supplies

Needles and tubes no longer faze Puttinant Rungsunlohakul, nor do bags of deep red blood. For most of his life, the 35-year-old has travelled to hospital every three or four weeks, where these tools deliver critical transfusions that prevent his body from shutting down.

“If you don’t get [the transfusions] you die, it’s very easy,” says Mr Puttinant, in a cafe in Siriraj Hospital on the banks of Bangkok’s Chao Phraya river, where he’s been treated for more than 30 years.

Mr Puttinant has a genetic blood disorder called thalassemia. While rare in Britain, it affects between five and seven per cent of the global population – and in southeast Asia, it’s so common that more than a third of blood supplies in countries including Thailand and Laos are used to treat patients, placing a major burden on the healthcare system.

“I’m in a Facebook group with other patients, to encourage each other. We call it the ‘Vampire Community’ because we consume so much more blood than other people,” laughs Mr Puttinant. “I’ve been having these transfusions since I was two, so I suppose it has become normal now.”

Thalassemia is an inherited condition, caused by faulty genes which mean a person doesn’t produce enough haemoglobin – the substance red blood cells use to carry oxygen around the body.

This can trigger severe anaemia, fatigue and shortness of breath, and if extreme cases go untreated, it also can cause abdominal swelling or serious organ damage. Among growing children, the disorder can even cause facial bone deformities known as “thalassemia face” if unaddressed – bone marrow expands, causing a ‘rodent or squirrel-like’ face structure.

“There are different types of thalassemia, which vary in terms of severity,” says Dr Kittiphong Paiboonsukwong, assistant director of the Thalassemia Research Center at Mahidol University, on the outskirts of Bangkok, adding that beta thalassemia tends to be the most serious.

“If both parents are a carrier of the same genotype, there’s a one in four chance that their children will develop thalassemia,” he said. “In some parts of Thailand, up to 50 per cent of people are carriers.”

It is thought that the trait became widespread because it confers some protection against the blood-sucking malaria parasite. This explains the existence of a “thalassemia belt” running from the Mediterranean through the Middle East and sub-Saharan Africa to south and southeast Asia.

“Sickle cell disease is part of the same group of red blood cell disorders… which are known to confer some level of resistance against malaria,” says Dr Fred Piel, an epidemiologist at Imperial College London specialising in haemoglobinopathies. “But overall, thalassemia disorders are still very neglected… and the most severe forms are mostly in southeast Asia.”

Data pinning down prevalence in the region remains patchy and estimations have currently large uncertainty ranges, but countries including Thailand and Laos appear the worst hit by the most serious forms of thalassemia, which require frequent transfusions throughout the patient’s life.

“We need blood banks for accidents, for childbirth, for dengue fever, hemodialysis, cancer and other diseases,” says Dr Chanthala Souksakhone, head of the National Blood Institute at the Lao Red Cross.

“But treating thalassemia is the single biggest use… about 30 to 40 per cent of blood collected is used to treat patients. So this indicates the type of burden we see in the country.”

He added that the Lao Red Cross is currently working to encourage more blood donations – 73,000 units were collected in 2023, and they’re aiming to boost this to 120,000 by 2030.

“In Thailand we have the same situation, about 30 to 40 per cent of all the blood in the blood bank is used for thalassemia patients,” says Dr Kittiphong. But he adds that the country’s supplies were hit by a drop in donations during Covid, which has not yet fully bounced back.

“The situation is now not as good in Thailand in terms of blood donations, which means sometimes there is not enough to give thalassemia patients two or three units at one time,” he says. “That means they have to come back to hospital more often, maybe every two weeks rather than every four weeks, which is inconvenient for them.”

Although thalassemia can cut short life expectancy, with regular blood transfusions – combined with iron-chelating drugs, which prevent an iron overload from these transfusions – many patients live long lives, with several of Dr Kittiphong’s patients in their late 70s.

Thalassemia can be cured through a stem cell transplant. But although many Thai hospitals can perform this procedure, it is only offered for severe cases of beta-thalassemia, and even then rarely, because of the risks involved – Dr Kittiphong says that there is a two per cent risk your body will reject the transplant, leading to death.

A company called Bluebird Bio has also developed a gene therapy for people with beta-thalassemia. But this is a challenging process – thalassemia can be caused by one of hundreds of mutations; the specific faulty gene needs to be identified before it can be corrected. It also costs 30 to 40 million baht – between £680,000 and £910,000 – making it prohibitively expensive in most of southeast Asia, says Dr Kittiphong.

There are clinical trials ongoing for newer gene editing tools – in the UK, there was excitement in August when it was announced that the first of these to use Crispr-technology would be available to beta-thalassemia patients through the NHS. It comes after Britain became the first country in the world to authorise Crispr therapy for use in patients last November.

Called Casgevy and developed by the company Vertex, this process does not target specific gene mutations in stem cells, but tells the body to stop producing adult haemoglobin and start producing fetal haemoglobin. This is what our bodies use when in the womb, but the genetic switch is flipped once we’re born.

But because beta-thalassemia only affects adult haemoglobin, disabling this switch cures the disorder. In international clinical trials, 93 per cent of patients with beta thalassaemia did not need a blood transfusion for at least a year after having the treatment.

“I think this is a better approach because it is universal,” says Dr Kittiphong. “But these sorts of cures are only available in Thailand through clinical trials.”

Instead, he says the country is focused on preventing cases in the first place, through a prenatal screening programme for pregnant women. If the most serious form of alpha thalassemia (which causes stillbirth) is found, an abortion is immediately carried out; if another form such as beta thalassemia is diagnosed (which requires lifelong blood transfusions), an abortion is offered but the decision left with parents.

While screening is provided for free for all women within the first 16 of a pregnancy in Thailand, few neighbouring countries in southeast Asia have the resources available, while abortion is also stigmatised in places like Laos.

“Myanmar is politically unstable, in Cambodia they have, I think, only one centre that can do DNA analysis, and in Laos they cannot do it and have to be sent out to Thailand,” says Dr Kittiphong. “So it is difficult for them to do prevention and control, let alone offer any thalassemia cures. So the burden remains on the blood banks.”

But Mr Puttinant, who works in the partnerships team at Mahidol University, is hoping that an end to his regular transfusions is on the horizon.

“I have a place on a clinical trial next year for gene therapy,” he says, his gestures animated. “I have to lose some weight first… but I hope it happens. It would mean I can travel more and exercise more. Without the transfusions, I will be able to do anything I want to do.”

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