Thalassemia Meaning in Urdu, Symptoms, Causes, and Treatment

Thalassemia Meaning in Urdu

تھلیسیمیا ایک موروثی خون کی بیماری ہے جس میں جسم مناسب مقدار میں ہیموگلوبن پیدا نہیں کرتا۔ ہیموگلوبن خون میں آکسیجن لے جانے کا کام کرتا ہے۔ اس بیماری کے نتیجے میں خون کی کمی (انیمیا) ہو جاتی ہے، جو جسم کو کمزور اور تھکاوٹ کا شکار بنا دیتی ہے۔ تھلیسیمیا اکثر جینیاتی طور پر والدین سے بچوں میں منتقل ہوتا ہے۔

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پیشینٹ ریکوری (صحت یابی) کیا ہے؟

پیشینٹ ریکوری اس چیز کا پیمانہ ہے کہ کتنے مریضوں نے اس ڈاکٹر سے علاج کے بعد اپنی صحت میں بہتری محسوس کی!

یہ فیصد کم از کم 50 مریضوں کے جوابات پر مبنی ہے جن سے علاج کے بعد رابطہ کیا گیا۔

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About Thalassemia

Thalassemia meaning in Urdu is “خون کی پیدائشی کمی”. It is a genetic blood disorder where the body makes abnormal or less hemoglobin. This leads to fewer healthy red blood cells, which causes anemia. People with mild thalassemia may have no symptoms. However, severe cases can cause serious health problems. Children with severe thalassemia may require lifelong treatment, including blood transfusions. The disease is more common in regions like South Asia, the Mediterranean, and the Middle East. With proper medical care, patients can manage symptoms and live healthier lives.

Thalassemia Symptoms

The severity of symptoms depends on the type of thalassemia. Watch for the following signs:

  • Fatigue
  • Weakness
  • Pale skin
  • Slow growth 
  • Delayed puberty in children
  • Bone deformities, especially in the face
  • Dark-colored urine
  • Enlarged spleen
  • Frequent infections
  • Shortness of breath
  • Headaches 
  • Dizziness
  • Cold hands and feet

Seek medical help if you notice:

  • Persistent tiredness despite rest
  • Unusual jaundice
  • Frequent need for blood transfusions
  • Severe bone or abdominal pain

Thalassemia Causes

Thalassemia is caused by mutations in the DNA of cells that make hemoglobin. The main causes include:

  • Inherited genetic mutations from one or both parents
  • Family history of thalassemia
  • Defective genes that can affect hemoglobin production
  • Cousin marriages increase risk
  • Mutations in alpha or beta globin protein chains

Thalassemia Risk Factors

The chances of having thalassemia increase with:

  • Family history of the disease
  • Being of South Asian, Middle Eastern, African, or Mediterranean descent
  • Having parents who are both carriers of thalassemia genes
  • Marriages between close blood relatives
  • Inheriting two defective globin genes
  • Living in regions with higher thalassemia prevalence

Thalassemia Prevention

While thalassemia cannot be prevented completely, you can reduce risk through:

  • Genetic counseling before marriage or pregnancy
  • Carrier screening for couples
  • Prenatal testing for unborn babies
  • Avoiding cousin marriages in high-risk families
  • Awareness programs in high-prevalence areas
  • Early diagnosis to manage complications

Thalassemia Types

Thalassemia is mainly divided into types based on the part of hemoglobin that is affected. Each type has different severity levels:

Alpha Thalassemia

This type occurs when alpha globin protein production is affected. Symptoms can range from mild anemia to life-threatening conditions based on the number of affected genes.

Beta Thalassemia

This form results when beta globin production is reduced or absent. It ranges from mild (minor) to severe (major). Severe beta thalassemia also requires lifelong blood transfusions.

Thalassemia Minor (Trait)

This type is usually mild. People may not have symptoms. However,  it can pass the gene to their children. It is odetected during blood tests for anemia.

Thalassemia Intermedia

This is a moderate form between minor and major. Patients may not need regular transfusions, but can still have anemia and other complications.

Thalassemia Major (Cooley’s Anemia)

This is the most severe form. Symptoms appear in early childhood, and patients require regular blood transfusions and medical care to survive.

Silent Carrier Thalassemia

In this type, only one gene is affected. It usually causes no symptoms and may go unnoticed without genetic testing.

Thalassemia Diagnosis

Doctors may use several tests to confirm thalassemia:

  • Medical and family history review
  • Complete blood count (CBC) to check anemia
  • Hemoglobin electrophoresis test to identify abnormal hemoglobin
  • DNA testing for thalassemia gene mutations
  • Prenatal genetic testing for unborn babies at risk
  • Iron studies to rule out iron deficiency 
  • Physical exam for enlarged spleen or bone deformities

Thalassemia Treatment

Treatment depends on the type and severity of thalassemia:

Medical Management

  • Regular blood transfusions for severe cases
  • Iron chelation therapy to remove excess iron from transfusions
  • Folic acid supplements to support red blood cell production
  • Medications to increase hemoglobin production

Advanced Treatments

  • Bone marrow or stem cell transplant (potential cure in children)
  • Gene therapy (under research)

Supportive Care

  • Vaccinations to prevent infections
  • Monitoring heart and liver function
  • Regular check-ups for bone health
  • Nutritional support
  • Psychological support for long-term patients

Thalassemia Complications

If not managed well, thalassemia can cause serious problems:

  • Severe anemia
  • Iron overload
  • Bone deformities
  • Enlarged spleen 
  • Growth and developmental delays in children
  • Increased risk of infections
  • Heart failure 
  • Fertility problems
  • Reduced quality of life
  • Increased mortality without proper treatment

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Disclaimer

Marham shares expert-reviewed information to support your health journey. The information on this page is only to guide and inform you. For any personal advice, it's always best to check with a medical professional.