beta thalassemia?

Question

hi, i would like to ask some questions about beta thalassemia, is it related to lethargy, my haemoglobin count is almost normal

Answer 1

lethargy in a thalssemic is directly related to the Hb levels. If you are lethrgic with normal Hb (around 10 gms% shd be OK) then you need to check out other problems. Certain infections are commoner in thalassemics, especially Hep B . You may also be having problems with your chelation meds 9Desferox or Deferiprone) - get it checked out with yr hematologist

Answer 2

Folks with Beta Thalassemia Minor often have no symptoms. If one does a CBC (complete blood count) there will be evidence of a minor anemia. The red blood cells will be a bit small and contain less hemoglobin but the body makes alot more of them to compensate. Typically no treatment is required and there is no specific treatment/cure. It is possible that Beta Thalassemia developed and remained in the gene pool because it confers some protection against the effects of malaria which up until recently was quite common in Mediterranean areas.

Answer 3

What is beta thalassemia?

Beta thalassemia is a type of inherited blood disorder that can cause anemia (a low number of red blood cells). It affects a person's ability to produce hemoglobin, the protein in red blood cells that delivers oxygen to all parts of the body.

Signs and symptoms of beta thalassemia are severe in the form of the disorder known as thalassemia major and less severe in the form called thalassemia intermedia. Signs and symptoms of thalassemia major appear in the first 2 years of life. Infants become pale and listless, have a poor appetite, grow slowly, and often develop jaundice (yellowing of the skin). The spleen, liver, and heart may also be enlarged. Adolescents with the severe form may experience delayed puberty. Individuals with thalassemia intermedia may have no symptoms or mild symptoms through childhood and adolescence.

How common is beta thalassemia?

Worldwide, beta thalassemia is considered a fairly common blood disorder, affecting thousands of infants each year. Beta thalassemia occurs most frequently in Mediterranean countries, North Africa, the Middle East, India, and southeast Asia. In North America, the disorder is less common; an estimated 750-1000 people have beta thalassemia.

What genes are related to beta thalassemia?
Mutations in the HBB gene cause beta thalassemia.

The HBB gene produces one of the subunits of hemoglobin, called beta hemoglobin or the beta chain. Mutations in the HBB gene can reduce or abolish the production of beta-hemoglobin, leading to abnormal hemoglobin that cannot perform its function as an oxygen carrier.

How do people inherit beta thalassemia?
Beta thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. Sometimes, however, carriers of the altered HBB gene have a mild anemia referred to as thalassemia minor.

In a small percentage of families, the HBB mutation is inherited in an autosomal dominant manner. In these cases, one copy of the altered gene in each cell is sufficient to cause the disorder.

Answer 4

Beta thalassemia

(i) Thalassemia minor, or thalassemia trait. These terms are used interchangeably for people who have small red cells and mild (or no) anemia due to thalassemia. These patients are clinically well, and are usually only detected through routine blood testing. Physicians often mistakenly diagnose iron deficiency in people with thalassemia trait. Iron replacement does not correct the condition. The primary caution for people with beta-thalassemia trait involves the possible problems that their children could inherit if their partner also has beta-thalassemia trait. These more severe forms of beta-thalassemia trait are outlined below.

(ii) Thalassemia intermedia. Thalassemia intermedia is a confusing concept. The most important fact to remember is that thalassemia intermedia is a description, and not a pathological or genetic diagnosis. Patients with thalassemia intermedia have significant anemia, but are able to survive without blood transfusions. The factors that go into the diagnosis are:


The degree to which the patient tolerates the anemia.

The threshold of the physician to transfuse patients with thalassemia.
With regard to the tolerance of the anemia, most patients with thalassemia have substantial symptoms with a Hb of much below 7 or 8 gm/dl. With hemoglobins of this level, excess energy consumption due to the profound hemolysis can produce small stature, poor weight gain, poor energy levels, and susceptibility to infection. Further, the extreme activity of the bone marrow produces bone deformities of the face and other areas, along with enlargement of the spleen. The long bones of the arms and legs are weak and fracture easily. Patients with this clinical condition usually do better with regular transfusions. The need for regular transfusions would then place them under the heading of thalassemia major (see below). On the other hand, some patients with marked thalassemia can maintain a hemoglobin of about 9 to 10 gm/dl. The exercise tolerance of these patients is significantly better. The question then becomes whether the accelerated bone marrow activity needed to maintain this level of hemoglobin causes unacceptable side-effects such as bone abnormalities or enlarged spleen. This is a judgment decision. A given patient at the critical borderline would be transfused by some physicians to prevent these problems, even if they are slight. The patient then would be clinically classified as having thalassemia major. Another physician might choose to avoid the complications of chronic transfusion. The same patient then would be clinically classified as thalassemia intermedia. The patient has thalassemia that is more severe than thalassemia trait, but not so severe as to require chronic transfusion as do the patients with thalassemia major.
A patient can change status. The spleen is enlarged in these patients. The spleen plays a role in clearing damaged red cells from the blood stream. Since all of the red cells in patients with severe thalassemia have some degree of damage, clearance by the spleen accelerates the rate of cell loss. Therefore the bone marrow has to work harder to replace these cells. In some patients, removal of the spleen slows the rate of red cell destruction just enough, that they can manage without transfusion, and still not have the unacceptable side-effects. In this case, the patient converts clinically from thalassemia major to thalassemia intermedia.

(iii) Thalassemia major. This is the condition of severe thalassemia in which chronic blood transfusions are needed (3). In some patients the anemia is so severe, that death occurs without transfusions. Other patients could survive without transfusions, for a while, but would have terrible deformities. While transfusions are life-saving in patients with thalassemia major, transfusions ultimately produce iron overload. Chelation therapy, usually with the iron-binding agent, desferrioxamine (Desferal), is needed to prevent death from iron-mediated organ injury.

Answer 5

Hi there !
"Lethargy" and "beta thalassemia" ??
what is the connection you are trying to make ?
question makes me lethargic !
anybody at home are thalassemic ?
you are from which place ?
question seems to be very vague !
more details please !
Ready to help !