Stem Cell Treatment to Cartilage-Hair Hypoplasia


Cartilage-Hair Hypoplasia
One of the rarest genetic disease is Cartilage-Hair Hypoplasia characterisation characteristically, it lead to skeletal deformities and a weak immune system. It also affects in short stature (dwarfism)
Primary alopecia condition is been generated by the disease having no pigment by the light fine hair. 15% of people are affected by this condition.
Symptoms include:
  • fine, sparse hair and eyebrows
  • skeletal and spinal abnormalities
  • short limb dwarfism
  • anaemia
  • low levels of white blood cells
The inherited autosomal recessive is Cartilage-Hair Hypoplasia. Its means that this disease is been carried by both parents but generally no sign of it is been shown by their own.
By uniparental disomy it can be inherited but in rare cases. That means instead of inheriting one copy from each parent the child inherits copies two chromosome from only one parent.
In Amish or Finnish population, the Cartilage-Hair Hypoplasia is been seen the most. Both male and females are been affected equally in this.
The gene mutation on short arm of chromosome 9 plays the lead role in this disease
In this disease 86% of people suffer from immunodeficiency, severe combined take immunodeficiency takes place from reaching mild then severe at last the worst case.  Life threatening infection can easily take place at this time.
Cartilage-Hair Hypoplasia complications are:
  • susceptibility to infection
  • skin cancers
  • blood cancers, such as leukaemia
  • autoimmune diseases
  • Hirschsprung’s disease (inability of digesting nutrients) is a gastrointestinal problem, also known as celiac disease.
  • Lymphoma that means immune system cancers

Treated of Cartilage-Hair Hypoplasia
Blood-forming (haemopoietic) stem cell transplant is a treatment option in SCID- Severe Combined Immunodeficiency in some of the cases.
Patients suffering from Cartilage- Hair Hypoplasia and having immune system deficiencies goes through the treatment of immunoglobulin replacement therapy and vaccinations, antibiotics for infections.
In circumstances of severe combined immunodeficiency, stem cells can be a possibility for transplant of donating blood forming (haemopoiteic).
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