Hemoglobinopathies could be identified early with NBS
Oct 09, 2023
Have you noticed your little one is suffering from shortness of breath? Or are they sleeping more often or longer than normal hours? It could be due to the warning signs of hemoglobinopathies, and you should visit your pediatric specialist to get your baby checked immediately.
Red blood cells in your body carry hemoglobin, which delivers oxygen to the entire body. The conditions that affect such vital proteins are known as hemoglobinopathies. They are the most common inherited disorders, affecting millions of people worldwide. But what if we say hemoglobinopathies could be identified early with NBS? Scroll down to discover more!
Hemoglobinopathies – An Overview
Hemoglobinopathies are a group of inherited disorders that affect the shape or number of red blood cells in the body. It is an inherited condition that might differ from one another and cause life-threatening symptoms. When left untreated for a long time, it will cause a decline in RBC, organ damage, and even death. Fortunately, hemoglobinopathies could be indemnity early with NBS, enabling early treatment and helping the child to lead a healthy life.
Causes of Hemoglobinopathies
Hemoglobinopathies occur when changes or variations in the genes provide inflation for making globin chains. These genetic variations will lead to the reduced production of normal globin chains or strictly altered globin chains. Such chemical variants will affect the hemoglobin's structure, behavior, production rate, and stability. The presence of such abnormal hemoglobin will alter the size, shape, and entire appearance, as well as the function of red blood cells.
RBCs with abnormal hemoglobin variants will not efficiently carry oxygen throughout the body. The body will break it down in a shorter period, leading to hemolytic anemia. There are also other types of Hb variants, which may or may not cause any symptoms. Undergoing a diagnosis for hemoglobinopathies that involves certain tests will help you determine e the types and amounts of the conditions.
Importance of Early Diagnosis of Hemoglobinopathies
Newborn screening is generally performed within the first two or three days after birth. Early diagnosis of hemoglobinopathies will help parents learn about ways and medical interventions to keep the child healthy and prevent further complications. Many individuals with hemoglobinopathies inducing thalassemia have been leading normal lives. Not treating it on time will lead to severe health complications such as cardiovascular or orthopedic problems.
How is NBS performed for Hemoglobinopathies?
Healthcare providers usually carry out newborn screening for hemoglobinopathies. A few drops of blood from the infant will be collected andplaced on Guthrie cards. The first sample will be collected between 24 and 48 hours after birth, and the next will be collected between 10 and 14 years. The blood sample will be analyzed for hemoglobinopathies.
The blood test will analyze the baby's red blood cells, including their size, color, and shape. Diagnosing the hemoglobinopathies with NBS is usually a multi-step process. A complete evaluation includes the following steps.
- Initial evaluation – The first step in hemoglobinopathies evaluation is a CBC with peripheral smear evaluations. It might find sickle cells, polychromasia, spherocytes, and Heinz bodies.
- Haemoglobin assays – Hemoglobinopathies can also be identified using HPLC or electrophoretic techniques. The combined sensitivity and specificity of the technique will aid in diagnosing sickle cell disease by identifying HbS.
- Genetic tests – Molecular genetic tests are also employed in diagnosing hemoglobinopathies to ensure the presence of specific conditions using Hb variants. For instance, the diagnosis of sickle cell disease is identified using biallelic pathogenic variants in the gene.
Indications for Hemoglobinopathies for infants
Hemoglobinopathies identification with NBS can be used to
- Screen newborn infants for common types of
- Perform carrier screening tests in individuals from high-risk populations or with a family history of the condition.
- Identify a specific hemoglobinopathy if there is the presence of hemolytic anemia or any other clinical finding
- Analyse sickle cell disease before surgery.
Risk factors of Hemoglobinopathies
Certain factors increase your chances of developing hemoglobinopathies, including:
- Family history – Most types of hemoglobinopathies are typically passed from one generation to another through mutated Haemoglobin genes.
- Specific ancestry – Hemoglobinopathies are often diagnosed in people of African descent, Hispanic-Americans from Central and South America, and people of Asian, Middle Eastern, Indian, and Mediterranean descent.
When to See a Doctor for Hemoglobinopathies
When your child shows the specific symptoms of hemoglobinopathies, seek professional medical assistance. It includes
- Difficulty in talking or walking
- Sudden blurry or changes in vision
- One-side paralysis or weakness in the face, arms, and legs muscles.
- Unexplained coldness or numbness in legs or hands
- Severe headache or fatigue.
NBS (NewBorn Screening) is a nationwide program to find babies born with specific health conditions, including hemoglobinopathies. While the testing can rule out or confirm the presence of the inherited condition, it will also help your healthcare provider to take necessary actions to keep your child as healthy as possible.
At Apollo Diagnostics, we specialize in diagnosing and screening hemoglobinopathies in newborn babies. Our premise is equipped with modern technology and supervised by experienced professionals who will provide the best diagnostic care for your child, allowing you to establish lifetime care and a healthy life in the long run.
Frequently Asked Questions (FAQs)
Q1. What is hemoglobinopathies newborn screening?
Hemoglobinopathy screening programs encompass NBS (newborn screening) to identify individuals with SCD or thalassemia. Such conditions might include the infant's survival rate or long-term health condition. Ideally, the test should be carried out between 24 to 72 hours of birth.
Q2. What is the confirmatory diagnostic test for hemoglobinopathies?
The abnormal level or functionality of hemoglobin (increased or decreased oxygen affinity) or unstable variants is usually suspected from phenotype. Certain specialized hemoglobinopathies tests, including determination of p50, heat stability test, or Heinz body prep, can confirm the suspicious presence.
Q3. What are the early symptoms of hemoglobinopathies?
An individual with hemoglobinopathies struggles with initial symptoms, including shortness of breath, pain or swelling in hands or feet, pale skin, sleeping more often or for a longer period, and coldness or numbness in hands or feet.
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