Severe Congenital Neutropenia

Medical science is one of the most advanced sectors around the world and has experienced immense growth in the last century. Many diseases which were known to be life-threatening and had no cure are now treated with medicines that are easily accessible. But there are medical conditions that still need a lot of research and are difficult to cure. Some of the severe conditions don’t even have a cure yet. Severe congenital Neutropenia is one of the uncommon diseases which is life-threatening and is related to the immune system of a person. This article will have an overview of this disease and its treatment.

Severe Congenital Neutropenia

Congenital Neutropenia is a genetic disorder, and the patient acquires it from birth. It is not a defect that comes from the external environment but is transferred from the genes of one of the parents. Some of the conditions of congenital neutropenia are said to be intermittent, but most of them are severe and rare in nature.

The reason behind this condition being life-threatening is its impact on the immune system and the production of neutrophils in the body which are a kind of white blood cells and help in fighting against infections in the body. When a person suffers from this genetic disorder, their body experiences a severe fall in the number of neutrophils in the blood circulation, which is extremely critical for survival. 

Neutrophils are increased in the body immediately after birth in a child, and it is often seen that the ones who suffer from congenital neutropenia start to experience a fall in this count and don’t survive infancy. It is important to know that this disorder is a condition that causes various life-threatening diseases, ultimately leading to loss of life. 

An individual suffering from congenital neutropenia has an extremely poor immune system which causes frequent infections, often succumbing to the person. Many vital organs either don’t work properly or totally collapse. Various types of cancers, as well as blood diseases, are developed at a very early stage of life in such people. The frequency of this disorder is quite low, as much as one in two lakh people.

Causes and diseases leading to severe congenital neutropenia

The development of a child happens through the transfer of genes from both parents. Genes play a monumental role in every part of the growth of a human body and sometimes bring life-threatening mutations along with others. The sole cause of severe congenital neutropenia is genes. 

Human genes develop bone marrow. Bone marrow is one of the most crucial parts of the human body, which protects it from infections by producing neutrophils which are a kind of white blood cells. In the case of a genetic disorder, either these cells are not produced or are very weak and not capable enough to protect the body. 

The disease is rare, and the research in medical science is still far away from evolving over it because one-third of the cases are caused as a result of unidentified genes. Most of the known cases are a result of mutations in the ELANE gene, and about one-tenth are caused by the HAX1 gene.

A severe congenital disorder is either caused by dominant or recessive genes, and there is no exact pattern identified for its cause yet. In almost all the known cases, there has been no apparent family history of the defect in any of the parents or ancestors. Research and studies have shown that the mutations from the ELANE gene are in an autosomal dominant pattern, and the one from the HAX1 gene is from the autosomal recessive pattern.

In cases with no genetic history, a recessive gene carries this defect leading to no symptoms. In rarest of rare cases, this defect is a result of the X chromosome, which is either transferred from the mother or father and passes on through a recessive pattern. It should be noted that in all cases, one copy of a gene is enough for the defect to occur.  

There are some major diseases caused due to severe congenital neutropenia, which directly affects the immune system. One of the most common diseases is leukemia. Leukemia is a kind of blood disease that is lethal for the survival of a person and is either caused because of the defect or as a side effect of its treatment. Other impacts can be a failure of vital organs such as the liver and kidney, and in many cases, it results in bone marrow failure.

Treatment

Defects caused due to genes are often difficult to cure and are expensive. The study of this defect is done under immunology which is a branch of medical science dealing with immune system diseases and defects. Severe congenital neutropenia is yet to get an accessible and affordable treatment. For now, it is treated through filgrastim, under which the neutrophil count increases in the body and is regularly monitored. But this treatment comes at the cost of a high risk of leukemia in people.

Conclusion

Severe congenital neutropenia is a genetic defect and is difficult to cure, to say the least. It is found in a person by breath, and most of them struggle to survive their infancy and all their life if they manage to get the treatment. Medical science is yet to do more extensive research on the defect and find a better cure.