Genetic conditions occur when there is a mutation in one or multiple genes. Read on to know about some of the common genetic blood disorders.

Genes form the blueprint of our body, i.e., it instructs our physical and functional attributes and makes us who we are! Let’s just pause for a moment to understand that these genes are also responsible at times for genetic anomalies or disorders that may affect the health of an individual.

These genetic conditions occur when there is a mutation in one or multiple genes. You can inherit a gene mutation from one or both the parents or may also acquire it during your lifetime. These conditions if go undetected, does lead to a lifelong battle for many. However, early diagnosis can help clinicians plan prompt treatment and management options to improve the quality of life of affected individuals. Hence, it is imperative to have a comprehensive genetic evaluation of the baby right after birth to check for any hidden disorders that are not apparent at the time of birth.

Dr Chirayu Padhiar, Senior Medical Director, LifeCell International Pvt Ltd shares insights on the common genetic blood disorders in the country and also discusses the available diagnosis as well as treatment options. He says, “genetic diversity along with founder effects and consanguineous marriages have been attributed to the high prevalence of genetic disorders in India. Thalassemia and sickle cell anaemia are two major genetic blood disorders that result in a long-lasting impact on the health and wellbeing of the affected individuals.”

What is Sickle Cell Anemia, and what causes this disorder?

Sickle cell anaemia is a type of sickle cell disease in which haemoglobin, the protein that transports oxygen throughout the body, is affected, which in turn jeopardises proper blood flow throughout the body. It is an inherited blood disorder that is passed down through families via mutated genes.

Red blood cells are normally disc-shaped and flexible enough to move freely through blood vessels. However, when a person is diagnosed with sickle cell disease, their red blood cells are usually crescent or “sickle” shaped. Since these cells cannot easily pass through blood vessels, they can obstruct blood flow to the rest of your body.

Symptoms

Symptoms of sickle cell disease usually appear in early childhood, at about 5-6 months of age. This disorder is distinguished by a low count of red blood cells (anaemia), infections, swelling in the hands and feet, and periodic episodes of pain. Symptoms vary from person to person. Some people experience only minor symptoms, while others are frequently hospitalised for more serious complications.

Diagnosis & Treatment Landscape In India

Couples who have a prerequisite knowledge that they have the disorder, or are ‘carriers of the mutated gene should consider genetic counselling and testing to prevent passing the disorder to their children. This knowledge helps to make the right reproductive decisions for a healthy pregnancy and baby. Parents of newborns can also consider newborn screening right after birth to provide the early and right treatment.

As sickle cell disease is a chronic illness, patients usually take drugs their entire life. The drugs are not a curative treatment for the disorder but help manage the symptoms that accompany the disease. Frequent blood transfusions may also be prescribed. Depending on the severity of the disease and availability of the donor blood stem cell transplant may also be carried out.

Recent studies also show the emergence of stem cell transplants as a curative treatment for Sickle Cell Anemia. The Indian healthcare market touted to be as advanced as its western counterparts, has been successful in numerous stem cell transplants as a curative treatment for sickle cell anaemia.

What Are the Different Forms Of Thalassemia?

Thalassemia is an inherited blood disorder that occurs when the body does not produce enough haemoglobin. It occurs due to a defective gene that is involved in the production of haemoglobin. When thalassemia is referred to as ‘alpha’ or ‘beta’, it refers to the portion of haemoglobin that is not produced by default in the body. When there is insufficient haemoglobin, the body’s red blood cells do not function properly and do not last for long, resulting in a significantly lower number of healthy red blood cells in the bloodstream.

Children are affected by this condition when they inherit the defective gene from one or both parents. When a child inherits the defective gene from both parents, the child will develop thalassemia major. The affected child may develop symptoms of severe anaemia within the initial years of their life.

However, if the child inherits only one defective gene, then the child has thalassemia minor and is a carrier. This fact, thus, underlines the importance of genetic counselling and prenatal tests in carriers.

Common Symptoms of Thalassemia

Not all affected individuals will show symptoms. In fact, some symptoms may start appearing in later stages of childhood or adolescence. People with less severe conditions may not know until being diagnosed with mild symptoms of anaemia, the appearance of yellow skin, delayed growth, or iron overload.

Diagnosis

India has the largest number of children with thalassemia major in the world. The figure becomes more staggering with about 1 to 1.5 lakhs children and almost 42 million carriers of beta-thalassemia. The majority of children with moderate to severe thalassemia develop symptoms within the first two years of their life. Blood tests help reveal anaemia and the presence of abnormal haemoglobin. Advanced genetic tests can also be used to analyze mutated genes to diagnose the severity and type of condition. Additionally, detection of an enlarged spleen might also be an important factor in diagnosis.

Couples planning a baby or in early pregnancy can choose a genetic carrier screening to assess the risk of passing on the thalassemia or other genetic conditions to their babies.

Treatment And Prevention

Depending on the severity and the type of thalassemia, the doctors may recommend transfusions, medications, or surgeries to remove the spleen or transplants. Mild forms of thalassemia including thalassemia minor, don’t usually require any specific treatment. Hematopoietic (blood) transplants can be curative in thalassemia major cases. However, a majority of the patients are unable to find HLA-matched siblings. Moreover, with a growing number of one-child families and a meagre 25% chance of finding an HLA-matched sibling, finding a suitable donor may become a challenge. An increasing number of parents are, therefore, turning towards alternative stem cell preservation models including community banking, in order to gain access to a repository of unrelated cord blood units.

India has pioneers in stem cell banking and genetic testing like LifeCell which excel in prenatal and newborn screening, helping couples understand their child’s health status. Timely diagnosis has helped many couples make better reproductive decisions and provide the prompt and right treatment to their children. Most importantly, having a positive outlook towards life, gaining support from friends and family, and consulting your doctor regarding optimal lifestyle and management choices can help simplify your journey.

This post first appeared on The Health Site

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