Thalssemia is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued.
If you have mild thalssemia, you might not need treatment. But more severe forms might require regular blood transfusions.
The symptoms of thalssemia can vary. Your experience will depend on the type of thalassemia you have and how severe it is.
▪︎ Asymptomatic (no symptoms)
You likely won’t have symptoms if you’re missing one alpha gene. If you’re missing two alpha genes or one beta gene, you may be asymptomatic. Or, you may have mild anemia symptoms, like fatigue.
▪︎ Mild to moderate symptoms
Beta thalssemia intermedia may cause mild anemia symptoms, or it may cause the following symptoms associated with more moderate disease –
• Growth problems.
• Delayed puberty.
• Bone abnormalities, such as osteoporosis.
• An enlarged spleen (the organ in your abdomen that plays a part in fighting infection).
▪︎ Severe symptoms
Missing three alpha genes (Hemoglobin H disease) often causes anemia symptoms at birth and leads to severe lifelong anemia. Beta thalssemia major (Cooley’s anemia) often leads to severe anemia symptoms noticeable by age 2.
Symptoms of severe anemia include those associated with mild to moderate disease. Additional symptoms may include –
• Poor appetite.
• Pale or yellowish skin (jaundice).
• Urine that’s dark or tea-colored.
• Irregular bone structure in your face.
Hemoglobin consists of four protein chains, two alpha globin chains and two beta globin chains. Each chain — both alpha and beta — contains genetic information, or genes, passed down from your parents. Think of these genes as the “code” or programming that controls each chain and (as a result) your hemoglobin. If any of these genes are defective or missing, you’ll have thalassemia.
• Alpha globin protein chains consist of four genes, two from each parent.
• Beta globin protein chains consist of two genes, one from each parent.
The thalssemia you have depends on whether your alpha or beta chain contains the genetic defect. The extent of the defect will determine how severe your condition is.
Thalssemia is classified as trait, minor, intermedia and major to describe how severe the condition is. These labels represent a range where having a thalassemia trait means that you may experience mild anemia symptoms or no symptoms at all. You may not need treatment. Thalassemia major is the most serious form and usually requires regular treatment.
There are two types of thalssemia — alpha and beta — named after defects in these chains.
▪︎ Alpha thalssemia
You inherit four genes, two from each parent, that make alpha globin protein chains. When one or more genes are defective, you develop alpha thalassemia. The number of defective genes you inherit will determine whether you experience anemia symptoms and (if so) how severe they’ll be.
• One defective or missing alpha gene means that you won’t experience symptoms. Another name for this condition is alpha thalssemia minima.
• Two defective or missing alpha genes means that if you experience symptoms, they’ll likely be mild. Another name is alpha thalssemia minor.
• Three defective or missing alpha genes means that you’ll experience moderate to severe symptoms. Another name for this condition is Hemoglobin H disease.
• Four defective or missing alpha genes usually results in death. In those rare instances when a newborn survives, they’ll likely need lifelong blood transfusions. Another name for this condition is hydrops fetalis with Hemoglobin Barts.
▪︎ Beta thalssemia
You inherit two beta-globin genes, one from each parent. Your anemia symptoms and how severe your condition is depends on how many genes are defective and which part of the beta globin protein chain contains the defect.
• One defective or missing beta gene means that you’ll experience mild symptoms. Another name for this condition is beta thalssemia minor.
• Two defective or missing beta genes means that you’ll experience moderate to severe symptoms. The moderate version is called thalssemia intermedia. More severe beta thalassemia involving two gene mutations is called beta thalssemia major or Cooley’s anemia.
Possible complications of moderate to severe thalassemia include –
• Iron overload.
People with this disorder can get too much iron in their bodies, either from the disease or from frequent blood transfusions. Too much iron can result in damage to your heart, liver and endocrine system, which includes hormone-producing glands that regulate processes throughout your body.
People with this disorder have an increased risk of infection. This is especially true if you’ve had your spleen removed.
In cases of severe thalassemia, the following complications can occur –
• Bone deformities.
It can make your bone marrow expand, which causes your bones to widen. This can result in abnormal bone structure, especially in your face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones.
• Enlarged spleen.
The spleen helps your body fight infection and filter unwanted material, such as old or damaged blood cells. Thalssemia is often accompanied by the destruction of a large number of red blood cells. This causes your spleen to enlarge and work harder than normal.
An enlarged spleen can make anemia worse, and it can reduce the life of transfused red blood cells. If your spleen grows too big, your doctor might suggest surgery to remove it.
• Slowed growth rates.
Anemia can both slow a child’s growth and delay puberty.
• Heart problems.
Congestive heart failure and abnormal heart rhythms can be associated with severe thalassemia.
Moderate and severe types of it are often diagnosed in childhood because symptoms usually appear within the first two years of your child’s life.
Your healthcare provider may order various blood tests to diagnose thalassemia:
• A complete blood count (CBC) that includes measures of hemoglobin and the quantity (and size) of red blood cells. People with this disorder have fewer healthy red blood cells and less hemoglobin than normal. They may also have smaller-than-normal red blood cells.
• A reticulocyte count (a measure of young red blood cells) may indicate that your bone marrow isn’t producing enough red blood cells.
• Studies of iron will indicate whether the cause of your anemia is an iron deficiency or thalssemia.
• Hemoglobin electrophoresis is used to diagnose beta thalassemia.
• Genetic testing is used to diagnose its alpha type.
Treatment and Home Care –
If you have thalssemia, follow these habits to stay well –
• Eat a healthy diet to keep your bones strong and give you energy.
• If you get a fever or feel ill, see your doctor.
• Stay away from sick people and wash your hands often.
• Stay up to date with vaccines.
• Ask your doctor about supplements like calcium and vitamin D.
• Don’t take iron pills.
With a mild case, you may feel tired and not need treatment. But if it’s more serious, your organs may not get the oxygen they need. Treatment might include –
• Blood transfusions. A transfusion is a way to get donated blood or parts of blood that your body needs, like hemoglobin. How often you need transfusions can vary. Some people have one every few weeks. Your transfusion schedule may change as you get older.
• Chelation therapy. Blood transfusions are important for people with thalssemia. But they can cause too much iron in the blood. That can lead to problems with the heart, liver, and blood sugar. If you get transfusions, you and your doctor will talk about whether you need medicine that can help remove extra iron from your body.
• Stem cell or bone marrow transplant. An infusion of stem cells from a matched donor can sometimes cure thalassemia.
• Supplements. In some cases, your doctor might recommend that you take extra folic acid or other supplements.
• Surgery. Some people with thalssemia may need their spleen removed.
• Dhatri Avaleha may have a potential to increase blood transfusion interval and decrease secondary infection and thus it can be used as supportive therapy with modern medical management.
• Giloy helps in reducing the risk of developing thalssemia. It may be taken regularly to prevent the complications of the disease. Giloy Sattva is a useful herb that has been used traditionally for the treatment of any kind of blood disorders. It helps to get rid of anaemia and makes the body healthy.”
• 4-5 teaspoons of fresh Tulsi juice to get relief in Thalssemia. You can take it anytime in the day.
• Yog Nidra and Pranayama play a vital role in this condition. Breathing in is the oxygenation of the body at physical level which builds the life force. Relaxation is where repair and restoration of the cells happen.
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