Melungeon Health Issues

Melungeon Health Issues

Nancy Sparks Morrison

by Nancy Sparks Morrison
April/May 2001

I am not a doctor. I can neither diagnose nor prescribe. I am a lay person, who because of my own personal health problems, has done extensive research on some Mediterranean illnesses which seem to run throughout my Melungeon connected families. The information that I am providing here is to be used for educational purposes only.  It should not be used for diagnostic or treatment purposes.

Here is an overview of the five major medical problems that some Melungeon descendants inherit.


Behçet’s SYNDROME is a relapsing, multi-system inflammatory disease in which there are oral/genital ulcers. There may be inflammation of the eyes, joints, blood vessels, central nervous system and gastrointestinal tract involvement.  Attacks last about a week to a month and reoccur spontaneously. Onset is usually between 20-30 years of age with symptoms ocurring up to several years after the onset. Twice as many men as women are affected.  There is a genetic predisposition with autoimmune mechanism and viral infection which may all play a part.  Related disorders are Reiters Syndrome, Stevens Johnson Syndrome, and Ulcerative Colitis. Click here for more on Behçet’s Syndrome. Also, visit the Behcet’s Disease Web page.

Joseph’s Disease/Machado-Joseph’s is a disorder of the central nervous system with slow degeneration of particular areas of the brain. Lurching gait, difficulty in speaking, muscle rigidity, impairment of eye movement, are involved. Mental alertness and intellect are preserved. Joseph’s disease is inherited through autosomal dominant mode of transmission, which means that it takes only one parent with the marker for you to have a 50% chance of inheriting the disease.  Type I, begins about age 20 years, Type II, about 30 years and Type III, Machado’s after 40 years. This disease is very similar to Parkinson’s Disease. Medicines are L-dopa and baclofen.

A research nucleus has been formed in Toronto, Canada to further the research of this disease that has afflicted many Portuguese as well as Melungeons. The incidence of M-J among Portuguese from the Azores Islands, as well as the Continent, is large. Machado-Joseph disease was discovered in the United States in 1972. The gene responsible for the disease was identified in 1994 and it is now possible to detect it before birth.

The name of this group is “The Friends of Machado-Joseph Disease Nucleus”. The University of Porto in Portugal is developing a world data base for the Machado-Joseph Disease. Anyone suffering from this disease may participate.   For further information visit their web site.

FAMILIAL MEDITERRANEAN FEVER is a hereditary genetically restricted disease commonly found among Jews originating from North African countries, Armenians, Turks and Arabs. Closely following the pattern of autosomal recessive inheritance (both parents must carry a recessive gene) , FMF is recognized by two independent manifestations: 1.) acute, short-lived painful, bouts of stomach pain, (may be followed by diarrhea);  pleuritis, an inflammation of the lining of the body cavities,  and/or some of its internal organs, which in its acute stage may produce, stabbing pain in the side or affected cavity, possible fever of 101-103 degrees, similar to gallbladder/kidney stone attacks/inflammation, and short, dry cough and body pain similar to arthritis and fibromyalgia and 2.) nephropathic amyloidosis, which can lead to terminal renal failure even at a young age. In half of the people this disease appears before age ten. The gene for FMF is located on the short arm of chromosome 16, yet the exact nature of the disease remains unclear. Foggy-headedness (inability to think clearly) may also be a part of the symptoms because of inflammation of the brain lining which causes the brain to swell. Fatigue (severe) can also be a problem.  Infertility and pregnancy loss in women with FMF is much more common than it is in the general population.

The identification of FMF is based on clinical findings, family history, physical examination and laboratory results obtained from patients experiencing attacks. No specific diagnostic test is available. There are four gene mutations that cause FMF. The genes have been identified and this should lead to the development of a blood test to identify the disease in people. Amyloidosis affects most untreated FMF patients. In its early stage it can be recognized by protein in the urine.

The medicine colchicine which comes from a plant that grows in the Mediterranean and is also used to treat gout is effective in controlling this disease. Colchicine treatment was first introduced in 1973 and in a dose of 1-2 mg/day on  a continuous basis, has been found to prevent attacks in most patients and amyloidosis in all patients. Colchicine treatment has been shown to be safe and entirely suitable for FMF patients.  Many FMF patients appear to be getting diagnoses of fibromyalgia and chronic fatigue syndrome. You can read about my Personal Experiences with FMF by clicking here.

SARCOIDOSIS is a disorder which affects many body systems. It is characterized by small round lesions of granulation tissue. The ones I have seen are about the size of a quarter and flat. Symptoms may vary with the severity of the disease. Fever, weight loss, joint pain, with liver involvement and enlarged lymph nodes are common.  Cough and difficulty in breathing may occur. Skin disease marked by tender red nodules with fever and joint pain is a frequent manifestation. Onset is usually between 20 and 40 years. For more information visit: NSRC-GLOBAL, the Sarcoidosis Center, the Sarcoidosis Home Page and So What is Sarcoidosis?

THALASSEMIA, Thalassemia is a rare blood disorder. There is not just one disease called Thalassemia, but several of them. All are chronic, inherited forms of anemia that affect an estimated 6 percent of the world’s population. These illnesses are among the most common inherited illnesses and are particularly common in people of Mediterranean, African, Southeast Asian and Chinese ancestry.   Patients with Thalassemia don’t produce enough red blood cells and cannot properly utilize iron. Some forms of the illness are mild, others are life-threatening.

Thalassemia major, also called Cooley’s Anemia after the doctor who identified the illness in the 1920s, is the most severe. Thalassemia major is a rare blood disorder characterized by a marked increase in F hemoglobin and a decrease in the production of certain oxygen carrying proteins in red blood cells. It is the most severe form of the chronic familial anemias that result from the premature destruction of red blood cells.  Cooley’s anemia patients often die of heart failure or other complications in their 20s or 30s.  Although they usually appear fine at birth, children with Cooley’s anemia eventually develop symptoms such as fatigue, slow growth patterns, shortness of breath, jaundice, spleen enlargement and bone deformities.

Another type of Thalassemia is designated Alpha Thalassemia. Some people do not produce enough alpha protein which causes them to have alpha-thalassemia.   It is commonly found in Africa, the Middle East, India, Southeast Asia, southern China, and occasionally the Mediterranean region. There are seven types of alpha thalassemias that range from mild to severe in their effect on the body.

Some people who do not produce enough beta protein have Beta-Thalassemia. It is found in people of Mediterranean descent; such as Italians and Greeks, and is also found in the Arabian Peninsula, Iran, Africa, Southeast Asia, and southern China. There are three types of beta-thalassemia that also range from mild to severe in their effects on the body.

In addition to the thalassemias mentioned above, there are other related disorders that occur when the abnormal gene for alpha or beta-thalassemia combines with another abnormal or mutant globulin gene.

In E. Beta Thalassemia, there is a hemoglobin E which is one of the most common abnormal hemoglobins. It is usually found in people of Southeast Asian ancestry, such as Cambodians, Vietnamese and Thai. When combined with the beta thalassemia trait, Hemoglobin E produces E. Beta Thalassemia, a moderately severe anemia which has similar symptoms to Beta Thalassemia Intermedia.

There is also a Sickle Beta Thalassemia. Sickle Beta is caused by a combination of beta thalassemia trait and the Hemoglobin S trait, the abnormal hemoglobin found in people with Sickle Cell Disease. It is commonly found in people of Mediterranean ancestry, such as Italians, Greeks, Turks, and in people from the Caribbean. The severity of Sickle Beta varies according to the amount of normal beta globin produced by the beta gene. When there is no beta globin produced by the beta gene, the condition is almost identical with Sickle Cell Disease. The more beta globin produced by the beta gene, the less severe the condition.

To learn more about Thalassemia, see Stanley M. Diamond’s Web Site, Childrens Hospital, Oakland and The Cooley’s Anemia Foundation. Also, visit the Easy Diagnosis Health site to answer questions about your symptoms and get an instant analysis.

Copyright © 2001 Nancy Sparks Morrison. All rights reserved.


  1. My interest is the occurrence of bipolar disorder, schizophrenia, or other mental illness among the Melungeon. I am aware that these have occured in my mother’s family line, which are about 50 percent Melungeon. If you know anything about this occurring among Melungeons, or if you know of someone who is Melungeon and has this kind of problem in their genealogy or family history, I would be interested in learning more about it. Thank you very much.
    Laura Sherfey

    1. I’m Melungeon. Schizophrenia runs in my family line. My Mom’s sister / Aunt has it. My Brother has it. My Great Uncle was said to have had either Schizophrenia or something similar.

      There is a genetic pre disposition to this illness in my family. All of the family have recessive genes whereas if they are not affected by full blown Schizophrenia we are highly suseptical to severe Anxiety and Depressive Disorders.
      Schizophrenia also runs high among Jews. I’m am also Jewish.

  2. as a child I visited relatives in West Virginia. They were referred to as “hoopies”. My grandmother always told me of American Indian ancestry. The Ancestry DNA said I had “Ohio valley” ancestry. Does this sound like Melungeons?

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