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Turkey is among the countries where genetically transmitted rare diseases are prevalent. In our country, many recessively inherited rare diseases are more common than in Europe and the USA, since one out of every five marriages is consanguineous. It is estimated that approximately 6-7 million people in our country suffer from rare conditions. Late diagnosis and treatment or absence of a proper treatment in rare diseases may lead to a chronic, progressive and life-threatening condition.





Alpha-mannosidosis is an inherited and ultra-rare lysosomal storage disease characterized by immune deficiency, facial and skeletal system abnormalities, hearing impairment and cognitive impairment. The disorder is caused by a lysosomal alpha-mannosidase deficiency. Alpha-mannosidosis is inherited in an autosomal recessive manner and develops due to mutations in the MAN2B1 gene on the chromosome 19.


It occurs in approximately 1 in every 500,000 live births. Consanguineous marriages are the most important risk factor. Babies are often born with a completely normal appearance, but their condition progressively worsens over time. In some children, there is a congenital equinus finding in the ankle (bending of the back of the foot towards the sole of the foot) or the development of hydrocephalus (accumulation of cerebral fluid in the cavities in the brain tissue and this increases the pressure in the head) in the first year of life.


The main features of the disease are:


  • Immunodeficiency (especially manifested by recurrent infections in the first 10 years of life),
  • Skeletal abnormalities,
  • Hearing impairment (moderate to severe sensorineural hearing loss),
  • Gradual impairment of mental functions and speech,
  • Psychosis attacks.


Among the impairments in motor functions accompanying these features, there are muscle weakness, joint abnormalities and loss of coordination in the limbs.


Facial features include a large head with prominent forehead, rounded eyebrows, flattening of the nasal arch, large tongue, widely spaced teeth and prognathism (front lower jaw). Mild strabismus is common.



Thalassemia Major


Thalassemia is a blood disease that causes microcytic red blood cell production that does not contain sufficient functional hemoglobin due to mutations in the HBB gene. 1,2 


Low hemoglobin levels cause oxygen deficiency in many parts of the body. one


Thalassemia is an autosomal recessive disease, meaning the parents are asymptomatic carriers and the affected individual has two copies of the HBB gene with the pathogenic mutation. 1

Because of the low hemoglobin level, individuals with thalassemia have a reduced number of healthy red blood cells. This causes pale skin, weakness, fatigue, and serious complications. In addition, the spleen of some thalassemia patients must be removed due to the risk of forming abnormal blood clots. 1


The incidence of symptomatic cases in the general population is around 1 in 100,000. 3

  1. Genetics Home Reference. National Institutes of Health. https://ghr.nlm.nih.gov/condition/beta-thalassemia . Last accessed: December 19, 2019.
  2. Origa R. 2000 Sep 28 [Updated 2018 Jan 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., Editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from:  https://www.ncbi.nlm.nih.gov/books/NBK1426/ . Last accessed: December 20, 2019.
  3. National Organization for Rare Disorders (NORD). https://rarediseases.org/rare-diseases/thalassemia-major/ . Last accessed: December 20, 2019.


 Nephropathic Cystinosis

Nephropathic cystinosis is the most common and severe form of cystinosis; characterized by the accumulation of cystine amino acid in the lysosome in cells; It is a metabolic disease that causes damage to many tissues and organs. 1,2

Nephropathic cystinosis usually occurs in early childhood as renal Fanconi syndrome. Fanconi syndrome is a serious disease associated with excessive excretion of nutrients and minerals such as glucose, amino acids, phosphate, potassium and sodium in the proximal tubule of the kidneys. This condition causes excessive urination and acute dehydration. Nutrient loss adversely affects growth and causes a soft, curved bone structure. Untreated children can develop kidney failure by the age of ten. 1

Nephropathic cystinosis is not just a kidney disease; It is a multisystemic disease that can lead to ocular and neurological diseases, muscle wasting, diabetes, thyroid and male infertility. 1

For the disease to occur, two altered autosomal recessive genes must be inherited from the parents. 1    Nephropathic cystinosis is an ultra-rare disease that occurs with a frequency of 1-2 in 200,000. 1


  1. Genetics Home Reference. National Institutes of Health. https://ghr.nlm.nih.gov/condition/cystinosis . Last accessed: December 20, 2019.
  2. Cystinosis Research Network. https://www.cystinosis.org/support-resources/managing-cystinosis/ . Last accessed: December 20, 2019.