Genetic disorders: Best not to marry cousins?

Published: August 21, 2013
Email
The reason for this genetic disease is high incidence of interfamilial marriages in Pakistan.

The reason for this genetic disease is high incidence of interfamilial marriages in Pakistan.

The reason for this genetic disease is high incidence of interfamilial marriages in Pakistan. Doctors speak at the National Lysosomal Storage Disorder Core Committee in Karachi. PHOTO: ONLINE
KARACHI: 

By the time Hijab was two years old, her parents knew their child was unwell. She could not take part in physical activities like other children her age. Her parents remained clueless about her predicament.

It was much later that the reason was discovered. When the case was referred to Lahore General Hospital’s head of Paediatrics Department, Dr Agha Shabbir Ali, he prescribed a complete check-up, including blood tests, bone marrow biopsy and an enzyme essay. The results were definitive. Hijab was diagnosed with a rare genetic disorder known as Gaucher disease, a sub-type of a range of genetic disorders called Lysosomal Storage Disorder (LSDs). Turns out that in Pakistan, the high number of interfamilial marriages taking place in the country make more children like Hijab susceptible to it.

The unknown enemy

LSDs are a group of 45 inherited genetic defects which ultimately affect multiple organs which lead to progressive physical and mental degradation over time. Some patients survive into adulthood; others are not so lucky.

Unfortunately, due to the rarity of the disease, it has been largely neglected. While healthcare professionals are gradually becoming aware of the dilemma, it may still be another few years before treatments are available.

Avoiding inter-marriages

“The first step towards addressing the issue at large is taking the necessary precautions,” explained Dr Aisha Mehnaz, head of Paediatrics at Dow University of Health Sciences and Civil Hospital Karachi,at the first press briefing of the National Lysosomal Storage Disorder Core Committee held at a local hotel in Karachi on Saturday.

Dr Mehnaz suggested that the only way to stop the incidence of genetic disorders was to educate people regarding the ill consequences of interfamilial marriages.

Dr Huma Arshad Cheema, a Professor of Paediatric Gastroenterology, Hepatology and Nutrition at the Institute of Child Health and the Children’s Hospital, Lahore, explained that by the time the correct diagnosis was made, it was too late to initiate treatment. “The prime objective of the committee is to spread awareness regarding the disorder among physicians, donors and the general public. Patients stand a better chance at managing their symptoms if they are diagnosed in the early stages.”

Role of the government

The next step would be to take the government on board and seek its assistance in providing treatment to these patients. There is a need for the government to devise a programme to facilitate the treatment of these patients.

Dr Agha Shabbir suggested that the government must provide the necessary resources to at least one laboratory in an urban centre to perform these tests. “It is indeed unfortunate that we do not even have accurate data on the number of patients currently suffering from the disease. This is because we don’t have proper diagnostic facilities.” Misdiagnoses causes a number of children from the same family to die before the doctor arrives at the correct diagnosis. “I have seen four children of the same family die due to this disorder before the fifth one was diagnosed with it,” reminisced Dr Cheema.

At least six of the LSDs are treatable through enzyme replacement therapy (ERT). This therapy is quite costly, however, with treatment options averaging at about Rs60,00,000 per year. Currently, eight children in the country are receiving treatment funded by various international donors which enables them to lead perfectly healthy lives.

“Currently, we have no support whatsoever from the government,” said Dr. Cheema. She explained that because the disease was quite rare as compared to other health issues, it was not on the government’s radar. But it is still an important issue “because every life is precious.”

Published in The Express Tribune, August 21st, 2013.

Facebook Conversations

Reader Comments (18)

  • Taurus
    Aug 21, 2013 - 11:30AM

    There are proper laws in Punjab and other part of the country to forbid marriages in which both guy and girl are thelisemia minor, but there is now law in Sindh for these type of marriages. Mostly this happens in cousin marriages. There is another reason behind not banning these type of marriages, in interior Sindh people prefer marriages in their close relations which is the main reason of Thelisemia major in their Kids.

    Recommend

  • Syedpk
    Aug 21, 2013 - 12:14PM

    I don’t buy the argument about genetic problems arising due to inter family marriages.
    The biggest proof is the state of jews today. They have been marrying inter family for atleast last 2000 years, and they are among the healthiest and the most intelligent people around today.

    Recommend

  • Pappu
    Aug 21, 2013 - 1:01PM

    @ Syedpk: Interesting to know muslims are following jews for inter family marriage culture. Also interesting to know that jews do not have genetic issues due to these marriages like muslims.

    Recommend

  • Imran Khalid
    Aug 21, 2013 - 1:33PM

    I researched a lot on this topic; my finding is that if there are contineus cousin marriages especially first cousins then it may create genetic problems but if there is rare cousin marriage then its okay. Avoid continues cousin marriages in your family.

    Recommend

  • anon
    Aug 21, 2013 - 1:34PM

    In the past, inter family marriages were common everywhere but developed world has either banned or discouraged them.

    @Syedpk
    Why buy what the scientists are saying when one can come with some explanation (does not matter if its true as long as it feels true) himself. Is it another Jewish conspiracy (helped by scientists everywhere) to discourage inter-family marriages so that Muslims can never be as smart as them ? If you are going to state stereotypes at least be accurate, Jews are considered physically weak not healthy (no idea if this stereotype has any truth in it).

    Recommend

  • ashar
    Aug 21, 2013 - 2:09PM

    Nothing but exaggeration.

    Recommend

  • Ammar
    Aug 21, 2013 - 2:30PM

    @syedpk dude from did you hear that jews are the healthiest people of earth. There are many genetic disorders which are common among jewish populations but rare otherwise and the only reason is continuous interfamily marriages. I am a doctor and we study about dozens of such diseases known to be prevalent among certain jewish communities only.

    And yes continuous interfamily marriages increase the risk genetic disorders, and the importance is on the word “continuous” . British Royal Family had prevalent Hemophilia disorders (also referred as The King’s Disease for the same reason) before they started marrying outside the royal family. Scientific data suggests marrying your second cousin is as normal as marrying someone in general population but you do share 1/8th of your DNA with first cousins, so risk increases slightly if there is a genetic disorder running in your family.

    Recommend

  • BABA
    Aug 21, 2013 - 2:50PM

    if their is no cousin marriages do the risk go down or the probability remain the same? answer is it still remains the same because any people can be carriers. so this is total rubbish that only diseases can come through cousin marriages. probability of LSD in love marriages outside cultures is still the same if either of the 2 partners are carriers!

    Recommend

  • Genius
    Aug 21, 2013 - 2:57PM

    @ Syedpk
    @BABA
    Looks like you guys are more learned than the qualified doctors of Pakistan.

    Recommend

  • shah
    Aug 21, 2013 - 3:02PM

    @Syedpk: get your facts right sir. The Ashkenazi Jews are a prime example of what goes wrong with inter-familial marriages. Do look them up

    Recommend

  • Indian Trolls win Spelling Bee
    Aug 21, 2013 - 3:26PM

    “… bone marrow biopsy and an enzyme essay.”

    It’s assay not essay.

    Recommend

  • Arshad
    Aug 21, 2013 - 3:53PM

    @ Syedpk
    I guess you have confused the term ‘inter-family’ with ‘Jews’. A jew family is a very small subject of the Jews, not the same. Yes there are marriages between Jews, but are these marriges necessarily between families?

    Similarly, the article points out the issues in inter-family marriges (a much smaller group), not between Muslims (in millions).

    Recommend

  • khan
    Aug 21, 2013 - 4:30PM

    @syedpk:

    Genetic diseases with a high prevalence in Jews are mostly recessive. In general, over 1,000 recessive diseases have been discovered. Most are rare but the prevalence of some of these diseases is increased 100-fold or more in Jewish as in other isolated ethnic groups with predominant inbreeding.

    In principal, if both the parents are HEALTHY carriers there is a 25% chance that the next offspring will be effected by the DISEASE.

    You need to carry your own I.Q testing before crediting anyone else as supremely intelligent ;-)

    Recommend

  • someone
    Aug 21, 2013 - 5:52PM

    @Syedpk:
    There are DOZENS of jewish genetic disorders. There are so many that they have an actual support group
    http://www.jewishgeneticdisordersuk.org/

    Recommend

  • Genius
    Aug 21, 2013 - 6:14PM

    @ khan: A comparison of Nobel Prize winners between Jews and Muslims.

    Nobel Prizes have been awarded to over 800 individuals, of whom at least 22% (182) were Jews, although Jews comprise less than 0.2% of the world’s population.

    As of 2012, ten winners of the Nobel Prize have been Muslims. Half of the 10 Muslim Nobel laureates were awarded the prize in the 21st century. Six of the 10 winners were awarded the Nobel Peace Prize.( for political reasons). Muslims are 25% of the world population.

    I hope now you can easily decide who are the most intelligent people around.

    Recommend

  • Pacer
    Aug 21, 2013 - 7:08PM

    @ Genius .. What next, men have won more Nobel prizes then women, white people have won more Nobel prizes then black people. Clearly winning Noble prizes is no standard of judging genetic superiority. It might only suggest which segments of the society have been more oppressed then the others.

    Recommend

  • Dr Dang
    Aug 21, 2013 - 7:15PM

    Its strange that this article repeatedly talks about early detection & curing of the disease rather than denouncing the practice.

    Recommend

  • Gingo
    Aug 21, 2013 - 7:52PM

    @Syedpk:
    Most of the vesiculobullous diseases( eg. pemphigus vulgaris, bechet’s disease etc), are found in orthodox Jews due to cousin marriages. And no this is not an anti Semitic comment but a scientific fact.
    Future generations benefit from newly acquired genetic traits, which is discouraged by inbreeding.

    Recommend

More in Pakistan