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know about the Alpha Thalassemia Mutation Test

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Everything you need to know about the Alpha Thalassemia Mutation Test

How would you like to know if you have the Alpha Thalassemia mutation before having children? This new service can help you with that, offering a simple blood test from your essa lab.  Which will tell you whether or not you have the gene mutation responsible for this potentially deadly condition.

Preventing the birth of an affected child. Here’s everything you need to know about the Alpha Thalassemia Mutation Test.

What is thalassemia?

It is a group of inherited blood disorders that affect red blood cells and are most common in people of Mediterranean, Southeast Asian, and African descent. Because red blood cells carry oxygen to all parts of your body, thalassemias can cause severe health problems if left untreated.

If a person has two genes for either beta-talemia or sickle cell anemia, they will show symptoms of these diseases as adults. For example, beta-thalassemia leads to anemia (lack of enough healthy red blood cells). Damage to internal organs such as the liver and spleen, bone deformities such as curved ribs or bones that break easily (due to a lack of bone marrow), growth delays in children, increased risk for infections and other complications.

What is alpha thalassemia?

Alpha thalassemia is a genetic blood disorder characterized by a reduced amount of hemoglobin, leading to anemia. It is cause by mutations in two genes: HBA1 and HBA2. An individual who inherits two copies of a mutate alpha-globin gene, one from each parent, is consider at risk for alpha thalassemia.

The best way to determine if your child has one of these mutations is through a blood test. Such testing is available through all major genetic labs, including Essa Lab’s state-of-the-art facility in Pakistan.

Why should I get teste?

What is thalassemia? Thalassemia is a genetic blood disorder that affects hemoglobin, transporting oxygen from your lungs to your cells. People with thalassemia are born without enough of a protein call alpha globin.

Consequently, their red blood cells become smaller and don’t live as long as normal red blood cells. There are two types of alpha-thalassemias—hemoglobin C and hemoglobin E—and they both produce anemia, which can cause fatigue, shortness of breath, paleness, and even heart failure if not treated.

How is it done?

The patient has blood drawn for genetic screening. One of seven genes, called globin genes, is test in a blood sample. The specific gene evaluated determines what mutation can be identify (thalassemia mutations or hemoglobinopathies).

A mutation occurs when a gene is altere and doesn’t function properly. Your doctor sent your genetic test results to Essa Lab Karachi after being evaluate by our doctors. We notify your doctor if any mutations are find in your DNA.

Is there any pain involve?

The Essa Lab report does not cause any pain. It is done by drawing a blood sample which requires a finger prick. A certain amount of blood is drawn depending on each individual and sent off for lab analysis.

The process is quick and simple and will only occur once you have supplied all required information through a questionnaire after your initial consultation with one of our specialists at the Essa Lab Karachi.

Where do I go for the test?

To determine if you are a carrier of thalassemia, you can go directly to one of the Essa Lab clinics. A physician will read the results at each clinic location. If it is determine that you have thalassemia. Further testing will determine whether or not it is thalassemia major or thalassemia intermedia.

May refer you from one of our clinic’s locations to an outpatient treatment center in your area for follow-up care. Depending on which test was administer, patients must return for repeat testing at specific intervals (often 1-2 years). Please note that only a licensed medical professional can provide official diagnoses and recommendations.

Are there any side effects?

Although there are no major side effects in genetic testing. It is still important to consult your doctor before performing any tests. The Essa Lab website notes that some potential side effects might include: abdominal discomfort, facial swelling; fatigue; feeling cold or hot, difficulty sleeping, hives, itching, or tingling in your fingers and toes.

To reduce the chances of experiencing these symptoms. Always follow the doctor’s orders for preparation and post-test treatment and rest for at least 10 minutes after receiving results. If any symptoms occur immediately following a genetic test or blood draw, contact your doctor right away. If one can save a sample, it may be tested further to determine if they are caused by false-positive results or contamination.

Any other questions or things we should be asking our doctor?

In addition to screening for a wide range of diseases. Your doctor can also check for telltale signs of genetic mutations. One example is asking your doctor about a test for alpha thalassemia, a type of blood disorder caused by two recessive genes that can lead to severe anemia and other serious health issues.

The good news? But Knowing whether or not you have any of these genetic mutations that can help prevent future complications. Allow doctors to offer better treatment options if those complications occur. If you’d like more information on genetics and its effect on your health, we’ve got a comprehensive guide here!