Beta thalassemia can be further divided into a heterozygous minor and a homozygous major variant. Thalassemia trait or thalassemia minor causes only mild anemia and can easily be mistaken for irondeficiency anemia. But sometimes one parent carries a different blood trait, such as hemoglobin e or hemoglobin s sickle cell. Alpha thalassemia major with hemoglobin barts usually results in fatal hydrops fetalis. There are two primary types of thalassemia disease. Pdf better differential diagnosis of iron deficiency anemia from. A differential diagnosis must be made to distinguish patients with iron deficiency anemia from those with.
Anemiadifferentiating between thalassemia minor and iron deficiency. The most common severe type in the united states is called cooleys anemia. It is passed down from one or both parents through their genes. Beta thalassemia major also called cooleys anemia is a serious illness. Beta thalassemia affects the hemoglobin in the red blood cells. An individual with two abnormal alpha globin genes is said to have alpha thalassemia trait. Beta thalassemia major homozygous disorder resulting in severe transfusiondependent hemolytic anemia. Imbalances of globin chains cause hemolysis and impair erythropoiesis. Beta thalassemia intermedia severity lies between the minor and major. Better differential diagnosis of iron deficiency anemia. The minor variant features only a low risk of hemolysis. Beta thalassemia is a blood disorder that reduces the production of hemoglobin.
Although someone with this condition may not experience adverse symptoms, the trait can be passed on to a child, and if the other parent also carries the trait, the child could develop thalassemia minor. The blood count of minor thalassemia shows microcytic, hypochromic erythrocytes. Tt are the most common forms of microcytic ane mia. Its also possible to be a carrier of thalassaemia, also known as having the thalassaemia trait. Homozygous thalassemia 1 severe anemia, nucleated rrcs. Beta thalassemia trait and beta thalassemia disease other forms of hemoglobin disease most of the time beta thalassemia disease happens when both parents have beta thalassemia trait.
In particular, iron is neither necessary nor advised. If you carry thalassaemia, you will not ever develop thalassaemia, but you may sometimes experience mild anaemia. Thalassemia minor is a less serious form of the disorder. Iron supplements may result in excess iron, which can collect in. Alpha and beta thalassemia american family physician. Distinguishing iron deficiency anaemia from thalassemia trait in. However, persons with thalassemia minor have a normal blood iron level unless they are iron deficient for other reasons. Get a printable copy pdf file of the complete article 525k, or click on a page. Thalassaemia minor refers to people who have genetic changes in one copy of the hbb gene for betathalassaemia or in one copy of each of the hba1 and hba2 genes for alphathalassaemia, but still. Over two million people in the united states carry the genetic trait for thalassemia. This condition is called thalassemia minor or betathalassemia. This condition is called thalassemia major, or cooley anemia. It is a genetic trait passed down from parents to children.
Thalassemias occur most often among people of italian, greek, middle eastern, southern asian, and african descent. You may have beta thalassemia trait and not know it. Having a thalassemia trait means that you may not have any symptoms, but you might pass that trait on to your children and increase their risk for having thalassemia. Anemia is a condition in which your body doesnt have enough normal, healthy red. Being a carrier of the trait is sometimes known as having the thalassaemia trait or having thalassaemia minor. Rdwi is better discriminant than rdw in differentiation of iron deficiency anemia and beta thalassemia trait. Signs and symptoms include severe anemia, poor growth and skeletal abnormalities during infancy. Thalassemia is a genetic blood disorder that impacts the ability of the blood to get oxygen to the bodys organs.
People with thalassemia minor or trait usually do not need blood transfusions because they either do not have anemia or have only a mild anemia. Persons with anemia from thalassemia trait should not take iron supplements unless they have. The symptoms of thalassemia major generally appear before a childs second birthday. So, you will not have any symptoms or problems from the. Alpha thalassemia disease and beta thalassemia disease. People with a thalassemia trait in one gene are known as carriers or are said to have thalassemia minor. In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. A trait carrier of thalassemia will always be a trait carrier. Beta thalassemia trait and beta thalassemia disease. Coexistence of iron deficiency anemia ida and beta thalassemia trait btt has been the topic of few studies. Alpha thalassemia thal uh see mee uh trait is a condition.
People with thalassemia intermedia not as severe as major, but not as mild as trait may need blood transfusions sometimes, such as when they have an infection or an illness. Thalassaemia trait thalassaemia minor this means that you carry a thalassaemia gene, but can still make enough normal haemoglobin. Laboratory diagnosis of hemoglobinopathies and thalassemia. Since this is also the case with iron deficiency and this condition is more frequent in practice, one should consider minor thalassemia when confronted with a nonconfirmed iron deficiency anemia. Hemoglobin is a protein that carries oxygen to the body. A new index for discrimination between iron deficiency anemia and beta thalassemia minor.
Untreated thalassemia major eventually leads to death, usually by heart failure. Anemiadifferentiating between thalassemia minor and iron. Silent carriers of alpha thalassemia and persons with alpha or beta thalassemia trait are asymp tomatic and require no treatment. Iron deficiency anemia and thalassemia minor are microcytic and.
Alpha thalassemia intermedia, or hemoglobin h disease, causes hemolytic anemia. Patients with thalassemia minor are sometimes said to have thalassemia trait, and they are often nonsymptomatic. Alpha thalassemia trait all red blood cells contain hemoglobin hee muh glow bin, which carries oxygen from your lungs to all parts of your body. If a person received an alpha thalassemia trait from her mother and the normal alpha parts from her father, she would have alpha thalassemia trait also called alpha thalassemia minor. The child born with thalassemia major has two genes for beta thalassemia and no. In thalassemia minor, the hemoglobin genes are inherited during conception, one from the mother egg and one from the father sperm. Iron deficiency anemia ida and betathalassemia trait.
Individuals who have one abnormal beta globin gene have beta thalassemia trait also known as beta thalassemia minor. Thalassemia knowledge for medical students and physicians. This type of thalassemia comes in two serious subtypes. Thalassemia major is the most severe form of beta thalassemia. Anemia from beta thalassemia intermedia causes slowed growth in children, weak bones, and an enlarged spleen. People with this condition will need frequent blood transfusions. The child born with thalassemia major has two genes for beta thalassemia. A diagnosis of alpha thalassemia trait can be made by demonstrating hemoglobin h bodies on the peripheral blood smear using special stains. Many of the conditions noted in examination of the blood of patients with thalassemia minor are much like those observed in patients with iron deficiency anemia. Patients with this condition have smaller red blood cells and a mild anemia, although they do not experience symptoms. Beta thalassemia minor is mild and usually doesnt cause problems. Several forms of hemoglobin eb thalassemia, sb thalassemia, and hemoglobin cb thalassemia.
Coexisting iron deficiency anemia and beta thalassemia. Beta thalassemia minor heterozygous disorder resulting in mild hypochromic, microcytic hemolytic anemia. Hemoglobin is the ironcontaining protein in red blood cells that carries oxygen to cells throughout the body. Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin h disease. All red blood cells contain hemoglobin, which carries oxygen from the lungs to all parts of the body.