Thalassemia
Thalassemia is a hereditary blood condition characterized by the production of an abnormal type of hemoglobin by the body. Hemoglobin is the oxygen-carrying protein molecule in red blood cells.
Anemia is caused by the disorder’s excessive breakdown of red blood cells. Anemia is a disorder in which your body lacks sufficient amounts of healthy red blood cells.
It is a genetic disease that requires at least one of your parents to be a carrier. A hereditary mutation or the loss of specific critical gene segments causes it.
minor is a milder version of the condition. There are two types of thalassemia that are more severe than the other. At least one of the alpha-globin genes has a mutation or aberration in alpha thalassemia. The beta-globin genes are compromised in beta-thalassemia.
There are distinct subtypes of thalassemia in each of these kinds. The intensity of your symptoms and your prognosis will be influenced by the kind you have.
Symptoms
Thalassemia can cause a variety of symptoms. The following are a few of the most common:
Excessive weariness and fatigue yellow or pale complexion bone abnormalities, especially in the face black urine delayed growth and development
It does not affect everyone in the same way.
Causes
Thalassemia is caused by a mutation or aberration in one of the genes responsible for hemoglobin synthesis. This genetic anomaly is passed down from your parents to you.
If only one of your parents is a thalassemia carrier, you may get thalassemia minor, which is a mild version of the illness. You won’t have any symptoms if this happens, but you’ll be a carrier. Mild symptoms do appear in some persons with thalassemia minor.
You have a higher risk of inheriting a more serious form of thalassemia if both of your parents are carriers.
People from Asia, the Middle East, Africa, and Mediterranean nations like Greece are the most likely to have thalassemia.
There are several kinds of thalassemia
There are three primary kinds of thalassemia (and four subtypes): beta-thalassemia (which includes the subtypes major and intermedia) and gamma thalassemia (which includes the subtypes minor and minor).
- hemoglobin H and hydrops fetalis are two kinds of alpha thalassemia.
- mild thalassemia
The symptoms and intensity of each of these kinds and subtypes vary. The time it takes for the symptoms to appear might also differ somewhat.
Thalassemia diagnosis
A blood sample will almost certainly be taken if your doctor is seeking to diagnose thalassemia. This sample will be sent to a lab to be examined for anemia and abnormal hemoglobin levels. A lab technician will examine the blood under a microscope to check whether any of the red blood cells are abnormally formed.
Thalassemia is characterized by abnormally formed red blood cells. Hemoglobin electrophoresis is another test that the lab technician may do. This test isolates the various chemicals in red blood cells, allowing the aberrant type to be identified.
Your doctor may advise you to avoid using iron-containing vitamins or supplements. This is especially true if you require blood transfusions, as recipients develop excess iron that the body cannot easily eliminate. Iron can build up in tissues, posing a risk of death.
Chelation treatment may be required if you get a blood transfusion. This usually entails receiving a chemical injection that binds to iron and other heavy metals. This aids in the removal of excess iron from the body.
Beta-thalassemia
When your body is unable to generate beta-globin, it is known as beta-thalassemia. Beta globin is made up of two genes, one from each parent. There are two severe forms of this type of thalassemia: thalassemia major (Cooley’s anemia) and thalassemia intermedia.
Major thalassemia
The most severe form of beta thalassemia is thalassemia major. It is caused by the absence of beta globin genes.
Thalassemia’s main symptoms usually develop before a child’s second birthday. The extreme anemia associated with this disease can be fatal. Among the other indications and symptoms are:
- fussiness \paleness
a weak appetite a failure to thrive jaundice (a yellowing of the skin or the whites of the eyes) enlarged organs
This kind of thalassemia is generally so severe that it need blood transfusions on a regular basis.
Thalassemia intermedia
Thalassemia intermedia is a milder type of the disease. It occurs as a result of mutations in both beta-globin genes. Blood transfusions are not required for people with thalassemia intermedia.
Alpha thalassemia
When the body is unable to produce alpha globin, it is known as alpha thalassemia. To produce alpha-globin, you’ll need four genes, two from each parent.
Hemoglobin H sickness and hydrops fetalis are two severe forms of this kind of thalassemia.
Hemoglobin H
It is a condition that occurs when three alpha globin genes are absent or when these genes are altered. This illness can cause bone problems. It’s possible that your cheekbones, forehead, and jaw will all grow out of shape. Hemoglobin H disease can also result in:
jaundice is malnutrition characterized by an enlarged spleen.
Hydrops fetalis
Hydrops fetalis is a severe type of thalassemia that develops before birth. The majority of infants born with this disease are stillborn or die shortly after birth. When all four alpha-globin genes are mutated or absent, this disease occurs.
Anemia and thalassemia
Anemia can develop fast as a result of thalassemia. A shortage of oxygen being delivered to tissues and organs characterizes this disease. Because red blood cells are in charge of supplying oxygen, a low quantity of these cells indicates that you don’t have enough oxygen in your body.
Anemia can range from moderate to severe. Anemia can cause the following symptoms:
- dizziness \fatigue \irritability
weakness and shortness of breath
You may faint out as a result of anemia. Severe instances can result in extensive organ damage and death.
Genetics and thalassemia
Thalassemia is a hereditary disease. Both of your parents must be carriers of the illness for you to acquire complete thalassemia. As a consequence, you’ll have two genes that have been mutated.
It’s also possible to be a thalassemia carrier, which means you only have one faulty gene from both parents rather than two. Either one or both of your parents must have or be carriers of the disease. This means that you inherit one mutated gene from either one of your parents.
If one of your parents or a family has the condition, it’s critical to get checked.
Minor thalassemia
Two genes are absent in alpha minor instances. One gene is absent in beta minor. The majority of people with thalassemia mild have no symptoms. It’s probable that they have mild anemia if they do. Alpha or beta thalassemia minor are the two types of thalassemia minor.
Even if you don’t have any symptoms of thalassemia minor, you might still be a carrier for the illness. This implies that if you have children, they may get a gene mutation as well.
Children with thalassemia
Worldwide, it is estimated that 100,000 kids are born with severe types of thalassemia each year.
Thalassemia symptoms can appear in children as early as their first two years of life. The following are some of the most prominent signs:
- fatigue \jaundice
Slow development due to pale skin and a lack of hunger.
It is critical to detect thalassemia in youngsters as soon as possible.
This disease, if left untreated, can cause issues with the liver, heart, and spleen. The most frequent life-threatening consequences of thalassemia in children are infections and heart failure.
Children with severe thalassemia, like adults, require regular blood transfusions to remove excess iron from their bodies.
Diet for thalassemia patients
For most people, including those with thalassemia, a low-fat, plant-based diet is the healthiest option. If you already have high iron levels in your blood, you may need to reduce iron-rich meals. Because fish and meats are high in iron, you may need to limit your intake of these foods.
You should also stay away from fortified cereals, bread, and drinks. They also have a lot of iron in them.
If you don’t receive enough folic acid in your diet, your doctor may suggest taking a daily 1 mg supplement.
Although there is no single diet that will cure thalassemia, eating the proper foods can assist. Any dietary modifications should be discussed with your doctor ahead of time.
Prognosis
There is no method to avoid thalassemia because it is a hereditary condition. There are, however, techniques to control the illness and avoid consequences.
In addition to continuous medical treatment, the CDC recommends that all people with the condition protect themselves from infections by getting the vaccinations listed below:
- Hepatitis meningococcal pneumococcal hemophilic influenza type b
Regular exercise, in addition to a balanced diet, can help you manage your symptoms and improve your prognosis. Heavy activity might aggravate your symptoms, so moderate-intensity activities are typically suggested.
Moderate-intensity workouts include things like walking and biking. Other alternatives include swimming and yoga, both of which are beneficial to your joints. The trick is to stay moving and find something you like doing.
The average life expectancy
Thalassemia is a severe condition that, if left undiagnosed or undertreated, can lead to life-threatening consequences. While it’s impossible to give a precise life expectancy, the general rule is that the more severe the thalassemia is, the sooner it becomes deadly.
According to some estimations, persons with the most severe type of beta thalassemia die by the age of 30. The decreased lifespan is due to iron excess, which can harm your organs over time.
Genetic testing as well as the possibilities of gene therapy are still being investigated by researchers. The earlier you are diagnosed with thalassemia; the sooner you may begin therapy. Gene therapy may be used in the future.
What are the effects of thalassemia on pregnancy?
Thalassemia also raises a number of pregnancy-related concerns. The disorder affects reproductive organ development. Because of this, women with thalassemia may encounter fertility difficulties.
To ensure the health of both you and your baby, it’s important to plan ahead of time as much as possible. If you want to have a baby, discuss this with your doctor to make sure that you’re in the best health possible.
Your iron levels will need to be carefully monitored. Preexisting issues with major organs are also considered.
At 11 and 16 weeks of pregnancy, thalassemia testing can be done. This is accomplished by taking fluid samples from the placenta or the fetus, as appropriate.
In women with thalassemia, pregnancy involves the following risks:
- an increased chance of infection
- cardiac issues caused by gestational diabetes
- The number of blood transfusions rose as a result of hypothyroidism (low thyroid).
- bone density is poor
International world thalassemia day
The 8th of May is a particularly important day for the worldwide thalassemia family since it is dedicated to both commemorating and celebrating all those thalassemia patients who are alive and fighting for their right to a better quality of life.
Every year on this important day, TIF focuses on a new subject that affects the quality and proper treatment of patients, as well as their overall quality of life.
- “Thalassemia history, present, and future: Country practices, development, and rising acknowledgment of patients’ rights” is the theme for 2018.
- “Get connected: Share knowledge and experience, and fight for a better tomorrow in thalassemia” is the theme for 2017.
- 2016 – “Access to safe and effective thalassemia medications”
- 2015 – “Improving collaboration toward patient-centered health systems: excellent health extends life!”
- “Economic Recession: Observe – Joint Forces – Protect Health” – “Economic Recession: Observe – Joint Forces – Protect Health” – “Economic Recession: Observe
- 2013 – “Every patient with Thalassemia has the right to quality health care: major and beyond”
- “Patient’s Rights Revisited” was published in 2012.
- “Equal Chance to Life” was the theme for 2011.
Food for thalassemia
Thalassemia and Nutrition
In thalassemia, nutritional deficits are prevalent.
Patients who are receiving blood transfusions are advised to eat a low-iron diet. The best choice for thalassemia individuals is to avoid iron-fortified meals including cereal, red meat, green leafy vegetables, and vitamin C-rich foods.
Dr. Sunil Gupta, Senior Consultant (Pediatrics) at Saroj Super-Specialty Hospital, Dr. Ian Pinto, Consultant Blood & Cancer Specialist, Jaslok Hospital & Research Center, and dietician Jasleen Kaur collaborated on a list of foods that blood transfusion patients should avoid on World Thalassemia Day.
Watermelons
The summer fruit, watermelon, is abundant in minerals, particularly iron. Vitamin C deficiency causes the body to absorb iron more slowly and inefficiently.
Dates
People with a low hemoglobin count, or iron concentration in red blood cells, are typically advised to eat dates. As a result, it should be avoided in the diet.
Vegetables that are green and leafy
Iron-rich foods include green and leafy vegetables such as spinach, kale, broccoli, Brussels sprouts, and cabbage. These are at the top of the list of foods that thalassemia patients should avoid.
Beans
Peas and other sorts of beans including chickpeas, black-eyed peas, kidney beans, soybeans, etc., contain maximum quantities of iron content.
Raisins
While raisins are low in Vitamin C, they are abundant in minerals, particularly iron. As a result, patients should avoid it at all costs.
Meat that is red in color
Iron is more easily absorbed by meat eaters than by vegetarians. Patients are advised to avoid red meats such as beef, mutton, and pork.
Peanut Butter (Peanut Butter)
Despite the fact that peanut butter includes a significant quantity of iron, it should be avoided on a regular basis. When combined with meat intake, the iron level might skyrocket.
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