Unfortunately, even with excellent medical care and chelation therapy, many will die in childhood or as young
adults. Many things have to be weighed prior to making this very major decision.
©J.
Khamis, 28 Mei 2009
IS THERE NO TREATMENT FOR THALASSEMIA MINOR?
No, there is none. However, most people do not exhibit any symptoms so treatment is not necessary. People with
Thalassemia minor should not take iron because they can get iron overload. It is worth noting that this disease does
not get worse as the patient gets older.
Thalassemia minor should not take iron because they can get iron overload. It is worth noting that this disease does
not get worse as the patient gets older.
IS THIS A RARE DISEASE?
In the United States, Thalassemia major is relatively rare, but it is much more prevalent in Italy. Thalassemia minor
may be fairly common in areas with a large Italian population.
may be fairly common in areas with a large Italian population.
WHAT TESTS ARE NECESSARY FOR A DIAGNOSIS?
Usually there are two. The first is reviewing a blood smear, which is a very helpful screening test. The second is a
Hemoglobin electrophoresis, which will usually establish a definitive diagnosis. Further testing may be necessary to
pin down rare variants of this condition.
Hemoglobin electrophoresis, which will usually establish a definitive diagnosis. Further testing may be necessary to
pin down rare variants of this condition.
THALASSEMIA ARTIKEL
Thalassemia refers to a group of inherited diseases in which there is a defect in the production of one or more of the
globin chains of hemoglobin. These diseases are better referred to as the thalassemic syndromes because they
represent a spectrum of diseases rather than one specific disease.
Thalassemia is derived from a Greek word that refers to the Mediterranean Sea. Although these anemias are seen in
many areas of the world, they were originally noted in Italy and Greece around the Mediterranean Sea.
Hemoglobin is composed of heme (an iron molecule) and globin chains. Globin chains are polypeptide chains that
contain about 140 to 150 amino acids. There are four different chains, and each molecule of hemoglobin has four
heme radicals and four globin chains.
The main problem in thalassemia is that one of the globin chains is not produced in normal numbers or, possibly,
not produced at all. This leads to several problems. The most obvious is that there will be a decreased amount of
hemoglobin so the patient will be anemic. The degree of anemia will depend on how severe the production defect
is.
Probably the best way to explain is with an example. Hemoglobin A (the major hemoglobin) in normal adults has
two alpha and two beta chains. If there is a defect in producing the beta chains, it is termed beta thal. If the defect
is inherited from one parent, the decrease in synthesis of beta chains may be mild, resulting in red cells that are
smaller than normal (microcytosis) and stain lighter than normal (hypochromia). The anemia is usually mild and is
called thalassemia minor.
If, however, the defect is inherited from both parents (homozygous), there may be little or no hemoglobin A. This
results in a profound anemia with hypochromic, microcytic cells. These people have more of a problem than just
decreased production of hemoglobin; they also tend to build up excess alpha chains. This causes damage to the red
cells resulting in hemolysis of red cells, as well as an ineffective production of red cells.
The type of thalassemia is named after the deficient hemoglobin. People who do not produce beta chains have beta
thal; if it is heterozygous, they have beta thal minor. Similarly, deficient alpha chain production results in alpha
thalassemia. On occasions, the defect in hemoglobin production is so severe that a fetus does not survive, resulting
in a stillbirth. On the other hand, some people have persistence of fetal hemoglobin production into adulthood; these
people, afflicted with either thalassemia or sickle cell disease, are somewhat protected by their fetal hemoglobin. As
mentioned previously, these diseases are inherited.
Thalassemia major is a serious disease that affects people early in life. These individuals are severely anemic. As
there is no medication to cure the anemia, blood transfusions are necessary. The person has the usual complications
of transfusion but additionally, with frequent transfusions, more and more iron is stored in the body. This eventually
leads to liver and heart disease, which is often the cause of death in people with thalassemia major. The bone
marrow expands, leading to thinning of the bones with fractures and overgrowth especially of the bones of the skull.
Until recently, the only way to prevent iron overload was to give a chelating agent by way of a needle under the
skin. The drug had to be infused over many hours, obviously a difficult procedure for young children. More
recently, a pill form of iron chelation has been developed; it is hoped that this will provide a better solution.
In the past ten years or so, bone marrow transplantation has been used as a treatment for thalassemia major. Recent
data points out that age and the amount of storage iron in the body are major determinants of the success of
transplantation. Therefore, the earlier in life the transplant is done, the higher the success rate, although it should be
noted that there is a 10 to 20 percent mortality risk from the transplantation.
Thalassemia minor does not require any treatment; however, it is important to identify this problem. Once the
diagnosis is established, it prevents the patient from having unnecessary tests and treatment. Some excellent
materials are available from the Cooley’s Anemia Society regarding variants of the disease.
In summary, Thalassemia refers to a number of inherited anemias. The most common in this country is beta
thalassemia. It can be severe as in beta thal major; less severe although still with many symptoms, as in beta thal
intermedia; or with few symptoms, beta thal minor.
globin chains of hemoglobin. These diseases are better referred to as the thalassemic syndromes because they
represent a spectrum of diseases rather than one specific disease.
Thalassemia is derived from a Greek word that refers to the Mediterranean Sea. Although these anemias are seen in
many areas of the world, they were originally noted in Italy and Greece around the Mediterranean Sea.
Hemoglobin is composed of heme (an iron molecule) and globin chains. Globin chains are polypeptide chains that
contain about 140 to 150 amino acids. There are four different chains, and each molecule of hemoglobin has four
heme radicals and four globin chains.
The main problem in thalassemia is that one of the globin chains is not produced in normal numbers or, possibly,
not produced at all. This leads to several problems. The most obvious is that there will be a decreased amount of
hemoglobin so the patient will be anemic. The degree of anemia will depend on how severe the production defect
is.
Probably the best way to explain is with an example. Hemoglobin A (the major hemoglobin) in normal adults has
two alpha and two beta chains. If there is a defect in producing the beta chains, it is termed beta thal. If the defect
is inherited from one parent, the decrease in synthesis of beta chains may be mild, resulting in red cells that are
smaller than normal (microcytosis) and stain lighter than normal (hypochromia). The anemia is usually mild and is
called thalassemia minor.
If, however, the defect is inherited from both parents (homozygous), there may be little or no hemoglobin A. This
results in a profound anemia with hypochromic, microcytic cells. These people have more of a problem than just
decreased production of hemoglobin; they also tend to build up excess alpha chains. This causes damage to the red
cells resulting in hemolysis of red cells, as well as an ineffective production of red cells.
The type of thalassemia is named after the deficient hemoglobin. People who do not produce beta chains have beta
thal; if it is heterozygous, they have beta thal minor. Similarly, deficient alpha chain production results in alpha
thalassemia. On occasions, the defect in hemoglobin production is so severe that a fetus does not survive, resulting
in a stillbirth. On the other hand, some people have persistence of fetal hemoglobin production into adulthood; these
people, afflicted with either thalassemia or sickle cell disease, are somewhat protected by their fetal hemoglobin. As
mentioned previously, these diseases are inherited.
Thalassemia major is a serious disease that affects people early in life. These individuals are severely anemic. As
there is no medication to cure the anemia, blood transfusions are necessary. The person has the usual complications
of transfusion but additionally, with frequent transfusions, more and more iron is stored in the body. This eventually
leads to liver and heart disease, which is often the cause of death in people with thalassemia major. The bone
marrow expands, leading to thinning of the bones with fractures and overgrowth especially of the bones of the skull.
Until recently, the only way to prevent iron overload was to give a chelating agent by way of a needle under the
skin. The drug had to be infused over many hours, obviously a difficult procedure for young children. More
recently, a pill form of iron chelation has been developed; it is hoped that this will provide a better solution.
In the past ten years or so, bone marrow transplantation has been used as a treatment for thalassemia major. Recent
data points out that age and the amount of storage iron in the body are major determinants of the success of
transplantation. Therefore, the earlier in life the transplant is done, the higher the success rate, although it should be
noted that there is a 10 to 20 percent mortality risk from the transplantation.
Thalassemia minor does not require any treatment; however, it is important to identify this problem. Once the
diagnosis is established, it prevents the patient from having unnecessary tests and treatment. Some excellent
materials are available from the Cooley’s Anemia Society regarding variants of the disease.
In summary, Thalassemia refers to a number of inherited anemias. The most common in this country is beta
thalassemia. It can be severe as in beta thal major; less severe although still with many symptoms, as in beta thal
intermedia; or with few symptoms, beta thal minor.
Sabtu, 9 Mei 2009
Free thalassaemia screening
Published on: Tuesday, October 17, 2006
Kota Kinabalu: The Health Department is providing free screening for the public to check for thalassaemia in an effort to ultimately bring the number of patients down in Sabah.
State Deputy Health Director (Public Health), Dr Mohd Yusof Ibrahim, said the public should take advantage of the free screening to determine whether they have the thalassaemia carrier genes.
"We are providing this free service to educate the public on the importance of checking their blood for any thalassaemia genes and to achieve our aim of reducing the number of patients in Sabah, which is the highest in the country.
"People can go to any nearest health clinics and Maternal and Child Health Clinics to benefit from the screening," he said.
Yusof said this to reporters after the handing over of a mock cheque for RM4,500 by Deputy Chief Minister, Datuk Yahya Hussin, to Thalassaemia Society of Sabah (TSS) at the Thalassaemia Treatment Centre in the Queen Elizabeth Hospital, here, Monday.
Also present were QEH Director Dr Zuraidah Ahmad Babji, Permanent Secretary of the Ministry, Michael Emban, and TSS President, Abdul Rahim Kahar.
Yusof said the Department is implementing the move as they have seen a successful effort in Cyprus where the number of thalassaemia patients in the country went down drastically with the provision of blood screening to the people.
"We launched the service last month and started the screening process in Kota Belud as a pilot project.
"The district was chosen as it is listed under a zone that has the highest number of cases in Sabah, apart from Tuaran. We will assure that the service will be available in other districts by next week," he said.
Once the blood sample is taken, Yusof said, the results can be known. But confirmation of results would take time.
"Once the person knows that he or she is a thalassaemia carrier, then the person can make early preparation or make decisions that concerns with marriage.
"Since the disease is genetically-inherited and if a carrier marries another carrier there is a 50 per cent chance that their children will suffer from the disease. But if only one of the couple is a carrier, then the chances of their children getting the disease is 25 per cent," he explained.
According to Yusof, the department will also start another programme to screen pregnant mothers in Keningau for early detection of the disease. "If the pregnant mother has the disease, then it is imperative for us to check the husband's blood.
"And if the result is positive, we will educate the parents on what to do and give them options, either to do screening on their baby or not," he said.
On the increase of thalassaemia patients yearly, he said: "I don't have the information in hand but I can tell you that there are always new cases every year and for this year, we have detected 300 people with the disease.
"Once we have started the free screening statewide, we would surely see many such cases come up."
Kota Kinabalu: The Health Department is providing free screening for the public to check for thalassaemia in an effort to ultimately bring the number of patients down in Sabah.
State Deputy Health Director (Public Health), Dr Mohd Yusof Ibrahim, said the public should take advantage of the free screening to determine whether they have the thalassaemia carrier genes.
"We are providing this free service to educate the public on the importance of checking their blood for any thalassaemia genes and to achieve our aim of reducing the number of patients in Sabah, which is the highest in the country.
"People can go to any nearest health clinics and Maternal and Child Health Clinics to benefit from the screening," he said.
Yusof said this to reporters after the handing over of a mock cheque for RM4,500 by Deputy Chief Minister, Datuk Yahya Hussin, to Thalassaemia Society of Sabah (TSS) at the Thalassaemia Treatment Centre in the Queen Elizabeth Hospital, here, Monday.
Also present were QEH Director Dr Zuraidah Ahmad Babji, Permanent Secretary of the Ministry, Michael Emban, and TSS President, Abdul Rahim Kahar.
Yusof said the Department is implementing the move as they have seen a successful effort in Cyprus where the number of thalassaemia patients in the country went down drastically with the provision of blood screening to the people.
"We launched the service last month and started the screening process in Kota Belud as a pilot project.
"The district was chosen as it is listed under a zone that has the highest number of cases in Sabah, apart from Tuaran. We will assure that the service will be available in other districts by next week," he said.
Once the blood sample is taken, Yusof said, the results can be known. But confirmation of results would take time.
"Once the person knows that he or she is a thalassaemia carrier, then the person can make early preparation or make decisions that concerns with marriage.
"Since the disease is genetically-inherited and if a carrier marries another carrier there is a 50 per cent chance that their children will suffer from the disease. But if only one of the couple is a carrier, then the chances of their children getting the disease is 25 per cent," he explained.
According to Yusof, the department will also start another programme to screen pregnant mothers in Keningau for early detection of the disease. "If the pregnant mother has the disease, then it is imperative for us to check the husband's blood.
"And if the result is positive, we will educate the parents on what to do and give them options, either to do screening on their baby or not," he said.
On the increase of thalassaemia patients yearly, he said: "I don't have the information in hand but I can tell you that there are always new cases every year and for this year, we have detected 300 people with the disease.
"Once we have started the free screening statewide, we would surely see many such cases come up."
Thalassaemia cases double
NST Online / 2009/05/09
KANGAR: The government is intensifying efforts to check the rising trend in thalassaemia cases following the near doubling of cases in the last five years, says Deputy Health Minister Datuk Rosnah Abd Rashid Shirlin. She said, according to the National Thalassaemia Register, 4,385 thalassaemia patients were recorded to date as compared with about 2,500 people in 2004. She believed many more cases remained unreported and said the ministry was stepping up efforts to track them down.
KANGAR: The government is intensifying efforts to check the rising trend in thalassaemia cases following the near doubling of cases in the last five years, says Deputy Health Minister Datuk Rosnah Abd Rashid Shirlin. She said, according to the National Thalassaemia Register, 4,385 thalassaemia patients were recorded to date as compared with about 2,500 people in 2004. She believed many more cases remained unreported and said the ministry was stepping up efforts to track them down.
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