King Tut and Sickle Cell Disease

20 Jul

Few deaths have generated more interest and confusion than that of King Tut, the Egyptian boy king. Some say he was murdered, others say he died of this injury or that disease, and still other says that he had multiple genetic disorders that did him in. Truth is that no one knows.

Back on March 2, 2010, I posted a note about King Tut and the fact that researchers had found DNA from malaria organisms and from this concluded that the young king had died from this very common disease. Now a German team of investigators have come up with another theory: Sickle Cell Disease.

In my original blog, I discussed how Tut had bony deformities of his legs, predominantly manifested as some form of clubfoot, as well as a cleft palate and some evidence that he may have had Marfan’s Syndrome. I also pointed out that his murky lineage might have been resolved by this DNA testing. It is entirely possible that his father Akhenaten might have bore the young king with Tut’s aunt, Akhenaten’s own sister.

Now, Christian Timmann and Christian Meyer of the Bernhard Nocht Institute have postulated another cause of death. They believe he might have had sickle cell disease and that this might have led to his death. Sickle cell disease is common in those of African descent and occurs more likely when inbreeding is present. With Tut being the son of a mating between brother and sister, and if each of them carried the sickle cell gene, it would be possible for the young man to have inherited the homozygous or worst form of sickle cell anemia.

In sickle cell disease the abnormal red blood cells often clog up small blood vessels, which in turn can reduce blood and oxygen supply to various portions of the body, including the bones. Sufferers of this disease often end up with bone damage and deformities from this reduced blood supply. Could this explain the young man’s boney abnormalities? Possibly but it would be hard to indict this cause for either a club foot or a cleft palate. Still some of his other musculoskeletal problems could easily be related to sickle cell anemia.

This will require further investigation and indeed studies are underway so hopefully we will have more information down the road.


9 responses to “King Tut and Sickle Cell Disease

  1. J.D.

    July 22, 2010 at 4:54 am

    I visited the Cairo museum and saw Tut’s mask among other things. There was a room dedicated to Tut. The museum was remarkable. The building appeared fifty, sixty years old, maybe more. It was not plush or climate controlled, but it was filled with ancient treasures. Pieces were displayed every few feet throughout the building. I kept thinking: They really should do a better job of protecting these treasures.

    Was Tut dark-skinned? What is the prevalence of sickle cell in the lighter skinned Egyptian population we see today?


    • D.P. Lyle, MD

      July 22, 2010 at 8:41 am

      I’m not sure anyone really knows what Tut looked like–only a guess from his mummy–which is not his natural coloring. Susceptibility to malaria is due to genetics and not appearance so skin color has nothing to do with it–only the genetic background of the person is important.


      • J.D.

        July 23, 2010 at 6:53 am

        I was more curious about sickle cell than susceptibility to malaria. More specifically in the lighter skinned Egyptians versus those in Africa with darker skin.


      • D.P. Lyle, MD

        July 23, 2010 at 8:27 am

        I’m not sure there is a difference. At least I could find no data on that. Malaria is more common in Subsaharan Africa than it is in Egypt but this probably has more to do with mosquito habitats than to racial or genetic differences.


  2. Kat Sheridan

    July 23, 2010 at 10:36 pm

    I’m curious if Duffy blood factors may have had any impact on malarial findings.


    • D.P. Lyle, MD

      July 25, 2010 at 12:20 pm

      Not likely since the Duffy proteins are on the blood cell surfaces while the DNA is in the nuclei.


  3. The Skeptic

    May 6, 2011 at 1:04 pm

    Sickle Cell : R-M343 :

    J Hum Genet. 2011 Jan;56(1):29-33. Epub 2010 Oct 28.
    Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon.
    Haber M, Platt DE, Khoury S, Badro DA, Abboud M, Tyler-Smith C, Zalloua PA.

    Medical School, The Lebanese American University, Beirut, Lebanon.

    We have sought to identify signals of assimilation of African male lines in Lebanon by exploring the association of sickle cell disease (SCD) in Lebanon with Y-chromosome haplogroups that are informative of the disease origin and its exclusivity to the Muslim community. A total of 732 samples were analyzed, including 33 SCD patients from Lebanon genotyped for 28 binary markers and 19 short tandem repeats on the non-recombinant segment of the Y chromosome. Genetic organization was identified using populations known to have influenced the genetic structure of the Lebanese population, in addition to African populations with high incidence of SCD. Y-chromosome haplogroup R-M343 sub-lineages distinguish between sub-Saharan African and Lebanese Y chromosomes. We detected a limited penetration of SCD into Lebanese R-M343 carriers, restricted to Lebanese Muslims. We suggest that this penetration brought the sickle cell gene along with the African R-M343, probably with the Saharan caravan slave trade.

    The origin, time of spread or details of the association of SCD with Lebanese Muslims cannot be deduced from the genetic content of sickle haplotypes. The sickle mutation is estimated to have arisen 3000–6000 generations ago,8, 9 whereas the haplotypes surrounding the β-globin locus are even older, limiting specificity of Lebanese SCD geographic origin.

    “DNA was extracted from blood using a standard phenol–chloroform method. Samples were genotyped using the Applied Biosystems 7900HT Fast Real-Time PCR System with a set of 28 custom Y-chromosomal binary marker assays (Applied Biosystems, Foster City, CA, USA) from the non-recombining portion of the Y chromosome, which define 21 haplogroups. The new samples were additionally amplified at 19 Y-chromosomal STR loci in two multiplexes and analyzed on an Applied Biosystems 3130xl Genetic Analyzer. The first multiplex contained the standard 17 loci of the Y-filer PCR Amplification kit (Applied Biosystems). The remaining two loci, DYS388 and DYS426, were genotyped in a separate custom multiplex provided by Applied Biosystems.”

    Regarding King Tut:…

    STRs are repeated DNA sequences which are “short repeat units” whose characteristics make them especially suitable for human identification.

    These STR values for 17 markers visible in the video are as follows:
    DYS 19 – 14 (? not clear)
    DYS 385a – 11
    DYS 385b – 14
    DYS 389i – 13
    DYS 389ii – 30
    DYS 390 – 24
    DYS 391 – 11
    DYS 392 – 13
    DYS 393 – 13
    DYS 437 – 14 (? not clear)
    DYS 438 – 12
    DYS 439 – 10
    DYS 448 – 19
    DYS 456 – 15
    DYS 458 – 16
    DYS 635 – 23
    YGATAH4 – 11

    The screen shot did not include DSY388 and DSY426 !


  4. Jo

    November 18, 2013 at 5:42 pm

    SCD is not caused by inbreeding. The gene is inherited from any two people that carry the gene.


    • D.P. Lyle, MD

      November 19, 2013 at 8:29 am

      That’s true and is the essence of inbreeding. If a closed community or extended family has a certain genetic defect in several of its members, it means that the gene is more likely to appear in any given member of the group. So conception between two members of that group would more likely pass along the defective or recessive gene to the offspring than would be expected in the general population. In other words, two carriers would more likely “get together” in this population than would be statistically likely in the general population. That’s what inbreeding is. So if an extended family had several folks with SCD, a child with SCD would more likely come from a union between two family members (say distant cousins) than it would if either of that pair mated with someone outside the family.



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