Numerous genetic diseases caused by mutations in the globin (alpha, beta, or gamma) genes are referred to as haemoglobinopathies. These mutations cause the haemoglobin (Hb) molecule to either produce less or have a different structural makeup. Numerous mutant Hbs can be found during regular newborn screenings but do not affect clinical outcomes since they operate normally. Various clinical problems can result from other haemoglobinopathies, most frequently from sickle cell disease and thalassemia syndromes.

When at least one Hb mutation and a second pathogenic beta globin variant are present, the most prevalent haemoglobinopathy, known as sickle cell disease, results from the aberrant Hb.

Inheritance of Haemoglobinopathies

Both parents pass on the genes necessary for producing haemoglobin to their children. Beta thalassemia major and sickle cell disease are two examples of haemoglobinopathies that are recessively inherited. An individual will be a carrier of this disorder but not experience symptoms if one unique beta chain gene is acquired from one parent. That is referred to as possessing a characteristic sometimes.

In the absence of screening, carriers of haemoglobin variations remain healthy and ignorant of their condition. In most cases, a person who has a haemoglobin variation will have roughly:

• Normal Haemoglobin A levels of 50 to 65%
• Unusual Haemoglobin levels of 30 to 45%
• A small amount of A2 and F Haemoglobin

A person will have a haemoglobin disease if they inherit two uncommon beta chain genes, one from each parent. Beta thalassemia major and sickle cell disease are the most prevalent clinically important disorders. Let’s discuss them.

Sickle Cell Disease

A hereditary haemoglobin disorder known as sickle cell disease is recessively inherited. When both parents convey aberrant haemoglobin genes to their children, this problem will develop. When the haemoglobin is deoxygenated (releases oxygen to the organs) in a person with sickle cell disease, the red blood cell becomes hard and malformed, resembling the shape of a sickle.

Symptoms

Sickle cell anaemia symptoms include:

• Usual anaemia symptoms, such as exhaustion, breathlessness, and pale skin and fingernails.
• Delayed puberty and slowed development in children.
• Yellowing of the skin, eyes, and skin whites.
• Issues with the eyes, including blindness.
• Repeated infections.

Diagnosis

Your doctor will ask you about any past neurological issues, chest pain, or infection history. A physical examination that focuses on your heart, lungs, joints, eyes, and neurological system may then be carried out by the doctor. Anaemia can be determined through a blood test known as a complete blood count, and a microscopic inspection of the blood may show the distinctive sickled cells.

Treatment

Supportive treatment options for sickle cell anaemia may include any of the following:

• Taking dietary supplements, such as folic acid supplements, can assist in promoting the synthesis of red blood cells.
• Regular antibiotic administration to prevent infection.
• If anaemia is severe or chronic, blood transfusions are used to treat it and avoid stroke.
• Vaccinations against Hepatitis, Influenza, Haemophilus influenzae, Pneumococcal Pneumonia, and other illnesses.

Curative Treatment

A treatment known as stem cell transplant, also known as Bone Marrow Transplant (BMT), involves replacing the sickle cell anaemia-affected bone marrow with healthy bone marrow that is administered by a drip into a vein from a donor.

Thalassemia

The capacity of your body to manufacture haemoglobin is impacted by the genetic blood condition called Thalassemia. Patients suffering from Thalassemia need medical care in the first two years of life due to severe problems with the enlarged liver and spleen. This hereditary condition is brought on by mutations in the HBB, HBA1 or HBA2 gene.

Symptoms

• Anaemia
• Pale Skin
• Growth Problem
• Swelling of the Belly
• A wider-than-normal skull or facial bone
• Dark urine
• Sallow Complexion
• Weakness and Fatigue

Diagnosis

Thalassemia is identified using the following tests:

• Complete Blood Count (CBC) and Peripheral Blood Smear – Assessing red blood cell characteristics and haemoglobin levels.
• Genetic Testing – DNA testing to look for gene mutations that might result in aberrant haemoglobin synthesis.
• Prenatal Test – Thalassemia is detected and diagnosed in the developing foetus via prenatal testing, including chorionic villus sampling and amniocentesis. These tests are also used to determine the condition’s severity.

Treatment

Treatment for mild forms of Thalassemia may not be necessary, but for severe cases, blood transfusions and other types of medical care may be necessary. The kind and severity of the condition are taken into consideration while treating Thalassemia.

Among the thalassemia treatments are:

• Blood transfusion
• Medication & Supplements
• Bone marrow transplant
• Surgery to remove the gallbladder or spleen

Support for Haemoglobinopathies

Families with children or other family members suffering from haemoglobinopathies might benefit from joining support groups to have access to a caring network of others who have firsthand knowledge of how to manage the illness. Family members, those who have been impacted, healthcare professionals, and activists can all find useful information from these organisations.

Apollo Hospitals, Karnataka, is dedicated to providing every patient and their families with top-notch, all-encompassing healthcare services. Patients with haemoglobinopathies come from across the country, and the hospital has been offering hope thanks to its modern facilities and recognised medical specialists. The board-certified, experienced doctors at Apollo Hospitals, Karnataka, are continually at the forefront of innovative studies that advance approaches for diagnosis and treatment.