Thalassemia, Hereditary Acquired Anemia, Hemophilia : Pharmaguideline

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Thalassemia, Hereditary Acquired Anemia, Hemophilia

In thalassemia, hemoglobin levels in the body are lower than normal because it is inherited.


In thalassemia, hemoglobin levels in the body are lower than normal because it is inherited. The main purpose of hemoglobin is to transport oxygen throughout your body. Thalassemia causes fatigue due to anemia. It might not even be necessary to treat mild thalassemia. Blood transfusions are likely to be required if the disease is more serious. Consuming a healthy diet and exercising regularly can help you overcome fatigue.


There are many types of thalassemia. It depends on the type and severity of your condition what symptoms you will experience.
  • Symptoms of thalassemia include:
  • Dark urine
  • Facial bone deformities
  • Fatigue
  • Weakness
  • Slow growth
  • Pale or yellow skin
Thalassemia symptoms can develop during a child's first two years; others are present at birth. Thalassemia symptoms do not appear in some people with just one affected hemoglobin gene.


Thalassemia is an inherited disorder where the DNA of the cells responsible for making the blood's oxygen-carrying hemoglobin is mutated. Thalassemia is a disease that is inherited from parents to children. There are two types of chains in hemoglobin molecules: alpha chains and beta chains. Thalassemias caused by a decreased beta-chain production include alpha-thalassemia and beta-thalassemia, respectively.

Alpha-thalassemia severity is determined by the number of gene mutations you inherit from your parents. A thalassemia diagnosis is more severe if more genes are mutated. Depending on which part of the hemoglobin molecule is faulty in beta-thalassemia, the severity of the condition will differ.

Alpha Thalassemia

The alpha hemoglobin chain is made up of four genes. Both parents contribute two genes. Inheritance of the genes:
  • If one of your genes is mutated, you will have no symptoms of thalassemia. However, your children can contract the disease from you if you are a carrier.
  • Your thalassemia symptoms and signs will be mild due to two mutated genes. Alpha-thalassemia disorder can be called such.
  • Your symptoms and signs will be moderate to severe if you have three mutated genes.
Stillbirth is caused when four of the five mutations are inherited. A baby with this condition usually dies shortly after birth or requires transfusion therapy for their entire lives. Transfusions and stem cell transplants may be used to treat a child born with this condition in rare cases.

Beta Thalassemia

The beta hemoglobin chain is made by two genes. Both your parents contribute one. Here is what you inherit:
  • There will be mild signs and symptoms if one gene is mutated. Thalassemia minor and beta-thalassemia are two terms used to describe this condition.
  • You will experience mild to moderate symptoms from two mutated genes. Thalassemia major, or Cooley anemia, is the term used to describe this condition.
  • It is normal for the baby to be healthy at birth, but signs and symptoms appear within the first two years of life when two beta hemoglobin genes are defective. Two mutated genes can also result in a milder form, thalassemia intermedia.

Hereditary Acquired Anemia

Throughout the body, oxygen reaches all parts of the body because red blood cells carry oxygen from the lungs to the heart. Red blood cells are produced by the bone marrow. Anemia caused by hemolytic anemia occurs when the bone marrow cannot produce sufficient red blood cells to meet the body's demands. Intrinsic and extrinsic hemolysis is both possible.

Extrinsic Hemolytic

Extrinsic hemolytic anemia can develop by a number of ways, including when healthy red blood cells are trapped in the spleen, or by an autoimmune reaction. As well as being destroyed by:
  • Leukemia
  • Infections
  • Lymphoma
  • Tumors
  • Medication side effects
  • Autoimmune disorders

Intrinsic Hemolytic

In hemolytic anemia, your body's blood cells may not function properly. Often, people who are sickle cell anemic or have thalassemia inherit their abnormal hemoglobin. Sometimes, this condition is due to an inherited metabolism disorder like G6PD deficiency or to the instability of red blood cell membranes like hereditary spherocytosis. The risk for hemolytic anemia is the same for everyone regardless of age.


It's possible that doctors will not be able to determine the cause of hemolytic anemia. There are many diseases that can lead to the condition, as well as some medications. Anemia resulting from extrinsic hemolysis may be caused by:
  • Typhoid fever
  • Enlarged spleen
  • Lymphoma
  • Infectious hepatitis
  • Tumors
  • Leukemia
Taking certain medications can cause hemolytic anemia in some cases. These cases are referred to as drug-induced hemolytic anemias. Here are some items that could cause this condition:
  • Quinidine
  • Interferon alpha
  • Rifampin
  • Acetaminophen
  • Ibuprofen
  • Chlorpromazine
Blood transfusions of the wrong type of red blood cells can cause hemolytic anemia, which is one of the most severe types. (A, B, AB, or O) Every individual has a specific blood type. A special type of immune system called antibodies will attack foreign red blood cells if you receive an incompatible blood type. In addition, red blood cells can be destroyed in an extremely fast manner, which is fatal. Healthcare providers must always verify the blood type of their patients before giving them blood. Hemolytic anemia can be caused by temporary causes. When the underlying cause of hemolytic anemia is identified and treated, it may be curable.


Each person will have different symptoms because hemolytic anemia can have so many different causes. However, hemolytic anemia is associated with some common symptoms. Some of the symptoms of hemolytic anemia are similar to those observed in other types of anemia. Symptoms common to these conditions include:
  • Dizziness
  • Fatigue
  • Lightheaded
  • Confusion
  • Weakness
  • Paleness of skin
A hemolytic anemia patient will also experience the following symptoms:
  • Heart murmur
  • Enlarged spleen
  • Dark urine
  • Enlarged liver
  • Increased heart rate
  • Yellowing of skin as well as whitening of eyes


There is a rare disease called hemophilia, which is caused by not enough clotting proteins (clotting factors) in the blood. Hemophilia makes it more likely that you bleed after an injury for longer than you would if your blood coagulated properly. Usually, small cuts don't cause too much trouble. Those with a severe form of the disease should be concerned primarily about bleeding inside their bodies, particularly in their knees, ankles and elbows. This can cause organ damage and tissue damage, which is life-threatening. A genetic disorder almost always causes hemophilia. In order to maintain good health, patients must regularly replenish their lost clotting factors. A number of new therapies are available that are free of clotting factors.


A person's level of clotting factors determines the signs and symptoms of hemophilia. Blood may clot only after trauma or surgery for those with low clotting factors. If a person is suffering from a severe deficiency, they may bleed easily without explanation. Bleeding that occurs spontaneously includes:
  • Unusual bleeding after vaccinations
  • Swelling, pain, and tightness of joints
  • Infant’s unexplained irritability
  • Blood in stool or/and urine
  • Deep bruises
  • Cuts or injuries that result in excessive bleeding, or bleeding after surgery or dental work that is unexplained and excessive
  • Nosebleed without cause
Bleeding into the brain
A person's level of clotting factors impacts the signs and symptoms of hemophilia. Those who have severe hemophilia may experience bleeding into the brain from a simple bump on the head. Despite being rare, this complication can have serious consequences. Some symptoms include:
  • Seizures or convulsions
  • Repeated vomiting
  • Painful, prolonged headache
  • Double vision
  • Sudden weakness or/and clumsiness
  • Sleepiness
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Ankur Choudhary is India's first professional pharmaceutical blogger, author and founder of, a widely-read pharmaceutical blog since 2008. Sign-up for the free email updates for your daily dose of pharmaceutical tips.
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