Thalassemia (Congenital Hemolytic Anemia) Testing in da Nang

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**What is Thalassemia?**:
According to the National Institute of Hematology and Blood Transfusion (NIHBT), as of 2017, Vietnam had approximately 12 million Thalassemia gene carriers, accounting for 15% of the population. Among them, over 20,000 individuals require lifelong treatment, and approximately 8,000 children are born with the disease each year.
- What is Thalassemia?_

Pathology and Mechanism: Thalassemia is an inherited blood disorder transmitted via an autosomal recessive pattern. It is caused by mutations affecting hemoglobin—a primary component of red blood cells responsible for oxygen transport. Due to abnormal hemoglobin production, red blood cells undergo hemolysis (premature destruction), leading to a low red blood cell count. This results in anemia and impairs the normal functioning of other organs.

Complications: Without appropriate treatment, the disease can lead to:

- Organ Enlargement: Specifically of the spleen, liver, and heart.
- Bone Abnormalities: Bones may become thin and brittle.
- Iron Overload: The breakdown of red blood cells leads to an abnormal accumulation of iron in organs such as the heart, liver, pancreas, and kidneys, potentially causing organ failure.
- Mortality Risks: Heart failure and infection are the leading causes of mortality in patients with this condition.

Classification: The two primary forms of the disease are Alpha-thalassemia and Beta-thalassemia.

**Alpha Thalassemia and Beta Thalassemia**:
Thalassemia is a hereditary condition classified according to the number of mutated hemoglobin-synthesizing genes inherited from the parents. The severity of the disease correlates directly with the number of mutated genes expressed.

**1. Alpha Thalassemia**:
There are 4 genes involved in the synthesis of the alpha-globin chain. The clinical severity depends on the number of defective genes acquired; the more mutations present, the more severe the condition.

- Most Severe Form (4 mutated genes): Often known as _Hb Bart’s hydrops fetalis_. In this condition, the fetus typically dies _in utero_ (stillbirth). If born alive, the infant usually survives only for a short time or requires lifelong blood transfusions.
- Inheritance Risk Example: Consider a scenario where the father carries 1 mutated gene and the mother carries 2 mutated genes. In this case, both parents may be asymptomatic or exhibit only mild symptoms (carriers). However, if all these defective genes are passed to the child, the child will inherit 3 mutated genes, resulting in Hemoglobin H disease (HbH), which is a serious condition. A similar risk applies to the inheritance of the 4-gene mutation form.

**2. Beta Thalassemia**:
There are 2 genes involved in the synthesis of the beta-globin chain. Mutations can manifest as follows:

- One Mutated Gene: Signs and symptoms are typically mild (often referred to as _Thalassemia Minor_ or _Trait_).
- Two Mutated Genes: Signs and symptoms can range from moderate to severe.
- Infants born with two defective beta-hemoglobin genes are usually healthy at birth, but signs and symptoms typically develop within the first two years of life (often _Thalassemia Major_ or _Cooley’s Anemia_).
- A milder form, known as Thalassemia Intermedia, can also occur with two mutated genes.
- Differentiation: The variability in these forms depends on the specific nature of the mutation. Mutations that merely reduce gene function result in milder symptoms, whereas mutations that completely abolish gene function lead to more severe forms.

**Genetic Thalassemia Testing (Congenital Hemolytic Anemia Screening)**:
Precision and Accuracy Unlike conventional methods that provide only risk-based assessments, genetic Thalassemia testing precisely identifies the specific genetic mutation carried by the individual and determines the exact nature and severity of the condition (phenotype).
- Genetic Thalassemia Testing (Congenital Hemolytic Anemia Screening)_

Planning for the Future This test empowers individuals to fully understand their own genetic status as well as that of their partner. This knowledge facilitates the most accurate family planning decisions and ensures appropriate monitoring strategies for future pregnancies.

Treatment Prognosis Thalassemia testing enables carriers to clearly comprehend their specific condition. This establishes a foundation for developing a precise treatment protocol and the most appropriate, personalized care regimen.

See more**:Non-Invasive Prenatal Testing (NIPT)**

**Thalassemia Screening Price List**:
**Who Should Undergo Thalassemia Testing?**:
Thalassemia testing is recommended for all individuals planning to marry, couples intending to conceive, and is applicable to all newborns.

Testing is mandatory (strongly indicated) for the following groups:

- Individuals exhibiting symptoms of Thalassemia: Fatigue, pallor (pale skin), jaundic