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Inherited Genetic Diseases Treatable With Stem CellsLearn More

What inherited genetic diseases are potentially treatable with stem cells?

There are a large number of inherited genetic diseases (like sickle cell anemia) that can now be accurately diagnosed early in fetal life by examining fetal DNA obtained by chorionic villus sampling or amniocentesis. In most cases the testing is done because the disease has been identified to run in the family.

Some of these diseases are treated after birth by bone marrow transplantation. However, successful bone marrow transplantation after birth is limited by lack of donor stem cells, damage already done to the baby by the disease, rejection of the donor cells by the baby’s immune system, and, in some cases, rejection of the baby’s tissue by the donor cells (graft-versus-host disease or GVHD). Many of the problems associated with transplantation of stem cells after birth are related to immune rejection. Transplantation before birth into a fetus whose immune system is not fully developed may overcome these problems.

The strategy of transplanting normal stem cells into a fetus with a stem cell defect at a time when the graft will not be rejected could be applied to wide variety of inherited defects (listed below). This approach is potentially applicable to any congenital disease that can be diagnosed prenatally and can be cured or improved by bone marrow or stem cell transplantation after birth. Although we have demonstrated that injection of hematopoietic stem cells (the stem cells for blood) into fetal lambs and monkeys leads to long-term andsuccessful growth of donor bone marrow stem cells in the recipient.(hematopoietic chimerism). However, this strategy has so far been applied successfully in only a few human diseases.

Inherited Genetic Diseases Treatable with Stem Cells
HEMOGLOBINOPATHIES

b-Thalassemia major

a- Thalassemia major

Sickle cell anemia
IMMUNODEFICIENCY DISEASES

Severe combined immunodeficiency syndrome

Bare lymphocyte syndrome

Chronic granulomatous disease

Wiskott-Aldrich syndrome

Infantile agranulocytosis (Kostman’s syndrome)

Lazy leukocyte syndrome (neutrophil actin deficiency

Neutrophil membrane GP-180 deficiency

Agammaglobulinemia

X-linked lymphoproliferative syndrome

X-linked hyper-IgM syndrome
INBORN ERRORS of METABOLISM  
Mucopolysaccharidoses

Hurler’s disease (MPS-1) (a-iduronidase deficiency)

Hurler-Scheie syndrome

Hunter disease (MPS-II) (iduronate sulfatase deficiency)

Sanfillippo B (MPS-IIIB) (a-glycosaminidase deficiency)

Morquio (MPS-IV) (hexosamine-6-sulfatase deficiency)

Maroteaux-Lamy syndrome (MPS-VI) (arylsulfatase B deficiency)

Sly syndrome (MPS-VII) (b-glucuronidase deficiency)
Mucolipidoses

Fabry disease (a-galactosidase A deficiency)

Gaucher disease (glucocerebrosidase deficiency)

Krabbe disease (galactosylceramidase deficiency)

Metachromatic leukodystrophy (arylsulfatase A deficiency

Niemann-Pick disease (sphingomyelinase deficiency

Adrenal leukodystrophy

I-cell mucolipidosis II
OTHER HEMATOPOIETIC DISEASES

Osteopetrosis

Diamond-Blackfan syndrome

Fanconi anemia

 

What is the outcome for a fetus with an inherited genetic disease?

Because stem cell defects result in such a wide of variety of diseases (hemoglobinopathies, immunodeficiencies, inborn errors of metabolism, etc.), the outcome for the fetus depends on that particular disease. The wide range of outcomes are anywhere from death or severe life-long impairment to survival and treatment after birth with minimal impairment. There are degrees of severity and variations in outcome even with a single disease. A good example is sickle cell disease: some children have very mild disease and do not need any treatment and others have very severe disease that requires frequent treatment and leads to severe impairment.

The best information about the consequences of each of these many inherited stem cell defects can be found on websites, support groups, and publications devoted specifically to that disease. We have provided links to some of these very helpful and informative websites. Another way to find information on any specific inherited defect is to use a search engine such as Google or by logging onto Medline/PubMed.

How serious is the inherited genetic disease in my fetus?

For you to make the best decision, you will need accurate and complete information about your fetus’s condition, including the type and severity of the defect determined by DNA testing. Further information on the individual defects can be obtained by linking to the websites listed above. In addition, you will want to know if there are associated defects, or if this problem is part of a cluster of problems (syndrome). Genetic testing of fetal material either from the placenta, or from the amniotic fluid, or obtained directly from the fetus is the most important part of this evaluation. Examination of DNA from the mother, father, and other family members may be necessary. Imaging of the fetus by transvaginal or transabdominal ultrasound or magnetic resonance imaging (MRI) may also be helpful. In considering possible fetal therapy, it is very important to know the age of the fetus. This is most accurately determined by early ultrasound.

When all the information is available, you will want to discuss it with a knowledgeable genetic counselor or perinatal geneticist. If appropriate, you may be referred to specialists for that particular inherited genetic disease.

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Last Updated: 4/1/2008
Sarah Elizabeth

Sarah Elizabeth

Baby Sarah Elizabeth has a very successful recovery from an SCT which is removed while she is still a fetus.

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Ethne Nerrmana