Rare haemophilia revealed after bris

TALI FEINBERG

“This case is unprecedented,” says Dr Dean Gersun, who is also a mohel. “In fact, the mohel helped to detect the condition, as this was the first time in 43 years of doing Brit Milah that he could not stop the bleeding. Therefore, he realised something was wrong.”

Gersun emphasises that the actual Brit Milah was perfect, and it was thanks to the mohel’s training and experience that the baby’s underlying condition was picked up.

“As regards the actual Brit Milah performed, we wish to reassure the community that this was not the cause of the undiagnosed underlying condition,” says Dr Richard Friedland, the Chairperson of the Regulatory Board of Brit Milah in South Africa.

The child’s parents confirm that their son has “a rare genetic blood disorder called haemophilia, in which he has a deficiency of the protein blood factors [resulting in his] blood not clotting properly. Generally, people who have haemophilia are missing only one factor, but our son is missing three factors. He is one in 100 000 people who have inherited combination haemophilia.”

The child’s case is so rare, he is the first documented patient in South Africa to have this specific haemophilia, and there are less than 200 documented cases in the world.

In spite of the rarity of the condition, “Halacha broadly deliberates upon how the Jewish obligation to circumcise an eight-day-old male infant is affected by haemophilia,” writes Samuel Reisman in his paper, “Haemophilia in Jewish Tradition and Genomes”. Reisman is pursuing a degree in biology at Touro College in New York City, and he received a Bachelor’s of Talmudic Law from Beis Medrash Gavoah in 2012.

“The Talmud rules that after two separate occurrences in which brothers haemorrhaged and died at circumcision, the third son should not be circumcised,” he continues.

If this is the case, why has it never been a concern to check for the condition before a Brit Milah? “Because it is usually picked up before the Brit Milah because of a family history of haemophilia,” says Gerson. “And if there is no family history, it is usually discovered during the bumps and bruises of birth, or from the pinpricks a baby undergoes in the hospital.”

Speaking to the SA Jewish Report, Reisman says he’s not sure why routine haemophilia screening is not implemented. “Generally, routine screening is implemented if a condition fulfils at least the following criteria: it is relatively common or if it has extremely high morbidity or mortality rate; it can be tested for with high sensitivity and specificity; and it can be effectively treated. Haemophilia testing is highly accurate and treatable, but I suspect the reason it is not routinely tested for is that it is not common, and mortality from haemophilia is exceedingly low.

“The rarity of having such a severe mixed coagulation disorder raises questions whether a routine screening programme for all newborns is practical. However, there are rarer conditions screened for routinely in the United States if they have high morbidity and there are treatments,” he says.

Dr Rosie Schwyzer, a paediatric haematology and oncology expert based in Johannesburg, says that haemophilia appears in one in 5 000 males, and it would be difficult to test routinely for the condition. If a family is concerned, she recommends looking at family history for any bleeding disorders in males or menstrual issues in females. Only about 30% of haemophilia cases are not hereditary. She points out that, “Any significant bleeding after a circumcision needs to be taken note of. Mothers must be empowered to trust their instinct if there is bleeding and it doesn’t seem right.”

Ultimately, Jewish tradition notes the risks of circumcising a baby with haemophilia, but emphasises that it is mainly a hereditary condition. “Many haematology and medical textbooks acknowledge that the first recorded description of haemophilia and genetically transmitted disease is found in the Talmud,” writes Reisman.

“The Talmudic description of haemophilia was two millennia ahead of its time, as the first modern description was recorded in 1803. Perhaps the Talmudic scholars were in a good position to notice this disorder and its hereditary patterns empirically because the universal Jewish practice of circumcision on the eighth day after birth facilitated the prompt diagnosis of bleeding disorders.”

In his paper, “Haemophilia and circumcision – from observation to classification: connecting a Talmudic presumption with a modern diagnosis”, University of Michigan Professor Daniel Eisenberg agrees with this view. “The story of haemophilia in Jewish law provides a fascinating insight into the observational powers of the rabbis.

“We also see the flexibility of Jewish law, and how it responds to up-to-date medical information to provide accurate Halachic rulings. It should give at least a small degree of humility to our modern minds to realise that rabbis in Israel, many centuries before the first medical description of haemophilia, had not only recognised its inheritance pattern, but had established laws to guard the health of babies who might have the disease.”

Meanwhile, the family of the little boy in Cape Town has thanked all the medical staff who are caring for their son, and the community for its ongoing support.

• His parents have requested donations to Haemophilia South Africa in his honour for a refuah shleima (prayer for recovery) at https://fundrazr.com/71RoBf?ref=ab_17oxYc_ab_64izcrEj4XC64izcrEj4XC