Thalassaemia Forum – Basic Information
This disease is usually genetical. Hence it’s inherited by a patient; therefore best approach to the management of thalassaemia mainly includes, the attempts at somatic cell gene therapy; as well as stimulation of fetal haemoglobin synthesis; which entails screening a carrier while pregnant. Therefore in the forum, this information was found on their homepage.
This website was originally a forum about a condition called thalassaemia. Along with other haemoglobinopathies and disorders; such as sickle cell disease; as well as acute anaemia.
Normally, thalassaemia; as well as these other disorders poses abnormal haemoglobin. Thus, symptomatic patients with the diseases have no definite cure. Only supportive care as well as management is possible. Hence, the forum was used to help various patients with tips about weight loss; (as that’s what it may lead to); as well as managing the diseases.
What should be noted
However, a limited number of patients with thalassaemia could be cured through bone marrow transplantation; which is also associated with breast cancer; from HLA-identical donors. Hence the forum also was used to help patients meet such donors. Along with suggesting the best ways to get treatment for them.
The forum was in operation from 2006 to sometime in the year of 2012. However, I’d like to discuss. As well as shed light about the disease myself; since I’m a medical student. I have some knowledge about the management of such diseases.
Therefore, this site now includes such content; which could help these patients. There are various posts about people suffering with the condition. They are worthy taking a look. You can access them by clicking through various categories below…
The choices available for an “at-risk” couple: Prenatal Testing
Where a woman carrying the thalassaemia trait is considering having a child; or is already pregnant; her partner (if not aware of his carrier status); should be tested at once to find out if he also has the thalassaemia trait.
However, if they are both carriers; the couple may decide to proceed with planning a family; or, if already pregnant, may consider continue the pregnancy. Only where this is possible to proceed with testing the fetus for thalassaemia. Possibly deciding to terminate pregnancy if the fetus is affected. Other choices considered by “at-risk” couples include; separation, adopting, as well as proceeding to invitro fertilization.
Testing a fetus for thalassaemia
There are three types of tests that can determine whether an unborn child has thalassaemia:
(i) Amniocentesis: Amniocentesis is performed in the second trimester of pregnancy; after about 15 (18-22) weeks’ gestation. Using ultrasound as a guide; a trained obstetrician inserts a very thin needle through the mother’s abdomen. To withdraw 2-3 tablespoons of amniotic fluid. The fetal cells; (cells from the unborn child); present in the fluid are then analysed in the laboratory to determine whether the fetus has thalassaemia.
This test is used when the pregnancy is far advanced. It poses no significant risk to the mother. However, the test may cause a miscarriage; from a few days to a few weeks after the test.
(ii) Cordocentesis Under ultrasound guidance; a fine needle is inserted through the abdomen into the fetal umbilical cord. About 2-3 ml of blood is aspirated; and fetal blood is separated out in the laboratory. In skilled hands 100% pure fetal cells are obtained from the first attempt in the majority of cases. Causes of failure in obtaining pure fetal blood include early gestational age; less than 18 weeks; maternal obesity. As well as poste rior placenta. Early gestational age is also the most important. This is be cause of occurrence of serious complications in cordocentesis.
Globin chain separation with gel electrophoresis is the usual laboratory method of detection. Early and specific diagnosis by molecular methods has almost completely replaced cordocentesis; which is now mainly indicated only in pregnant patients who report late; in those in whom CVS is inconclusive. When previous studies of at risk couples are not available.
(iii) Chorionic Villus Sampling (CVS) CVS can be performed somewhat earlier than amniocentesis; at about 10-11 weeks’ gestation.
How the cells are removed:
The cells are removed either by a thin needle inserted through the mother’s abdomen (transabdominal); or a thin catheter inserted through the vagina (transcervical). The cells are then analysed. Then a diagnosis made.
As with amniocentesis CVS poses no significant risk to the mother. However, there is again a small risk of a miscarriage. If a miscarriage does occur; it can be difficult to know whether it was due to CVS. The reason is because many miscarriages happen; naturally at around 12 weeks of pregnancy.
Nonetheless, there may be an increased risk of the baby’s limbs being malformed if CVS is done very early in pregnancy; i.e. before the 8th week after the last menstrual period. However, there is no evidence of an increased risk of any malformation when CVS is carried out; after the beginning of the 9th week; and after the last menstrual period. This is why the procedure is generally carried out; after the beginning of the 10th week; after the last period.
How genetic testing works
Amniocentesis as well as CVS are both based on DNA testing; they involve identifying or excluding the genetic abnormality (mutation) present in parents; the most accurate means of diagnosing inherited diseases. However, as with all tests; there is a possibility of error; albeit a very small one.
Be that as it may, the genes for the characteristics we inherit; including hemoglobin, are made of DNA. Every tissue in the body; including a baby’s placenta, contains a person’s entire DNA pattern. In the case of CVS; for example, laboratory scientists study the hemoglobin genes contained in the DNA of cells from the chronic villi to see if the baby will be normal; a thalassaemia carrier. Or will have thalassaemia major. Analysis of the sample usually takes about a week.
Extremely important: Even at these stages decisions have been taken by the couple to continue with the pregnancy; accepting the lifelong treatment of the affected child. If pregnancy termination is the choice, however, this is done in one of the two ways; depending on the stage of the pregnancy.
Nevertheless, early terminations can be carried out when a woman is less than 14 weeks pregnant. The couple should be informed that termination does not reduce the woman’s chance of having another baby. However, it should also be explained that each pregnancy conceived; by an at-risk couple carries the same risk of producing an affected child. If the couple wishes to know whether any subsequent babies conceived carry thalassaemia; prenatal diagnosis will have to be carried out again.
The procedure for terminating a pregnancy at over 14 weeks involves inducing labor; by introducing hormones (prostaglandin) into the womb. The labor may last for several hours. And the procedure is much more upsetting for the woman than an early termination. Again; this type of termination does not affect the woman’s ability to become pregnant again.
Prenatal diagnosis and the termination of pregnancy are controversial. Unfortunately, however, prevention cannot rely on the identification of carriers alone. Screening cannot be effective; and successful in the absence of prenatal diagnosis and pregnancy termination. Other methods of prevention are being developed; such as analysis of foetal cells in the mother’s blood.
This, however, has limitations and cannot offer to-date a reliable alternative to classical prenatal testing. Another technique is pre-implantation genetic diagnosis; (PGD); which involves the use of DNA technology to select a healthy egg from a woman carrier to be fertilized in the laboratory. Then introduced into the womb. PGD may prove more acceptable to those populations; opposed to the termination of pregnancy. Thus, it may become more widely used once the technique becomes less costly; and less technologically demanding as well.
Thalidomide Was not the Problem.
Several months ago, I watched a medical documentary called “Nobody’s Perfect.” This documentary features some of the victims of thalidomide. These innocent victims were born deformed due to the drug’s adverse effects; which caused birth defects. Apparently, thalidomide is a 1950s German produced drug that was administered as a sedative. Also, to reduce the effects of morning sickness in pregnant mothers.
On the other hand, the drug had adverse side effects on fetuses; which resulted in hindered limb development leading to deformities in babies. Due to incompetent government policy and lax medical regulations; the drug’s adverse effects were not discovered. They were addressed until a significant number of mothers had consumed the drug. Although the drug was withdrawn from the market in the late 1950s; as well as early 1960s; a numerous number of victims had ingested the pills. Their kids would become innocent victims to the drug’s adverse defects.
However, I must confess that before I watched this shocking documentary; I had little knowledge regarding the events surrounding this drug’s use and banning. Then I had came across the occasional news article; such as the 2010 FDA award; which rather intrigued me. The reason was because the award named ‘Kelsey’ was actually being awarded to Kelsey.
Like every other busy person; I quickly forgot about the award. Therefore, I did not even consider why it was being given. However, after watching the documentary; my interest was aroused. However, I started researching on the circumstances surrounding the introduction; use and banning of this cursed drug. Thanks to the global information highway; internet. Nonetheless, I was overwhelmed with information on this drug. After devouring a great deal of historical information on the drug; I was devastated. As well as perturbed by the level of greed in major corporations.
Howbeit, the most disturbing thing about my research is the fact that; an American pharmaceutical company tried to force the approval of this drug; without proper testing. In what appears to be the highest degree of shameful corporate greed; the Richardson-Merrell company tried to have the FDA approve the drug for a record six times. This was without conducting further tests to evaluate its effects.
The evil profit-oriented dehumanizing plot failed; when a solitary hero at the FDA refused to approve the drug. He insisted that the company should conduct further tests to ascertain safety. The solitary hero was a pharmacologist named Dr. Kelsey.
Anyhow, the good doctor rejected the powerful conglomerate’s overtures and power games. He denied the awful company approval to market or to distribute the drug. Sadly, the company had already distributed millions of tablets for clinical testing; before researchers confirmed the risk of birth defects caused by the drug.
Dr. Kelsey has received (some post-humorously) several national and medical awards for standing his ground. Along with refusing to approve this drug. His valiant stance helped reduce the birth defects caused by the drug in the United States. However, other countries were not as lucky. Hence there are thousands of innocent victims deformed by this drug across the world today. Today there are several variants of FDA approved thalidomide; which have minimal side effects; as well as help in the treatment of cancer.
This indicates that the drug was not the problem; rather it was the pharmaceutical companies that rushed tests driven by an insatiable thirst to make quick profits. After deliberating on the events that led to the thalidomide disaster; I realized that the drug was not cursed. But rather greed caused it to seem so.
Thank You thalassaemia; An Unlikely Hero
My uncle Jim is nicknamed by his closest workmates as the “indomitable one.” After doing a quick dictionary search for the meaning of this word; I discovered that it means impossible to subdue; rather a kind of superman. Although this name only used by his closest pals; it intrigued me that an unlikely hero like my uncle would be referred to by this name.
My curiosity led me to question my uncle regarding how this weird. But cool nickname was coined. For many years, my uncle refused to explain. But he told me that it related to nasty cancerous disease called thalassemia. However, several years ago he narrated the sad; but an amazing tale.
According to the rather long tale; my uncle who works with a documentary making company had traveled to the Ivory Coast in Africa. To shoot a documentary several years ago. This particular journey was my uncle’s first trip to Africa. The rest of the crew who were seasoned travelers told him all sorts of scary things about the continent. One particular scary story concerned the high rate of disease infections in the continent; especially the contagious killer diseases.
After arriving in Ivory Coast; my uncle was surprised to see a vibrant country. He was quick to point out to the crew the evident harmlessness of the continent. The crew’s leader was quick to caution my uncle against judging a book by the cover. This statement was confirmed in the next few days.
Infection in a foreign land
After traveling to the interior parts of the country; the team was doing well until one of the crew member started complaining of a fever. The crew had taken all the necessary medications. They were confused regarding the ailment. Within two days, four of the fifteen crew members were severely ill; with fevers, loss of appetite, as well as generally bad symptoms. After sending the sick back to the capital for treatment; the rest of the crew hoped that the test results would indicate that this was just a scary aversion to the new environment.
By the time the tests were phoned in; the rest of the crew except my uncle was also afflicted. Including the crew leader; a seasoned traveler who had visited this country countless times. Amazingly, my uncle was as fine as a fiddle. Actually, he recalls joking with the sick crew to cheer them up by stating that he was unaffected to look after. The tests revealed that they were all infected with a very infectious; as well as a deadly strain of malaria.
The “indomitable one”
Following the infection; the crew cancelled the shooting prematurely. This is because some of the members; including the crew leader; were severely ill. They had to be flown back to the US. Again, my uncle was not infected. He even claims that he never felt so alive. After returning home, my uncle went to the hospital for further tests. He tested negative for malaria.
The doctor explained that my uncle had an inherited carrier gene for the disease, thalassaemia; which apparently offered him resistance to certain strains of malaria. Because he could not be subdued by the malaria; the team nicknamed my uncle the indomitable one. After the Ivory Coast national football team; which had recently won the African Cup of Nations football tournament. After the doctor told my uncle that the single carrier gene was harmless, all my uncle could say was; ‘Thank you thalassaemia.’
The Terrible Disease
Thalassaemia is a terrible disease that is transmitted through inheritance. This results in a blood disorder. Apparently, the blood disorder causes huge numbers of red blood cells to be destroyed leading to anemia. In other words; it is a cancerous type of disease for the blood. It also kills. In its later stages, it can cause internal organ damage mostly the spleen.
The most intriguing thing about this disease is how it is passed down or inherited. According to medical researchers, there are two types of the disease; a major, as well as a minor version. The major version is the terrible malady; which kills. It is caused if the child inherits two faulty genes from both parents. Following some medical mathematics, if each parent carries the faulty gene; there is a 25 percent chance of infection for each child born. Or one in four children will get the disease.
Disaster in waiting
According to medical researchers; thalassemia does not affect the carriers of the faulty gene. In other words; if a person has one faulty gene, there are no symptoms for the disease. Hence no infections. The problem occurs when two parents with faulty genes procreate. The reason is because the resultant child has a one in four chance of contracting the disease.
This means that you could have the faulty gene; and not know it. This is because there are no symptoms. Hence, end up marrying a person with another faulty gene. Your children will then be at risk of contracting the deadly disease. It is a disaster in waiting.
My cousin Jake is infected with the deadly disease. Jake was diagnosed with the disease when he was one year old after suffering from anemia. Following the diagnosis; my cousin relies on frequent blood transfusions to replace the damaged red blood cells. Frustratingly, the transfused blood then leads to build up in iron in his body. Requiring the iron to be pumped out again using medication. The huge numbers of damaged red blood cells have to be pumped out of the body; which overworks the spleen; as well as causing it to enlarge.
All these sickening (pun intended) activities occurring in my cousin’s body have caused a lot of pain; as well as trauma to my Uncle Ron’s family. Additionally, the medication used to pump out the iron overload from my cousin’s body has severe side effects; including nausea, vomiting as well as diarrhea. As a result of all this suffering; I investigated the cause of this malady only to realize it is inherited. After further investigations, I discovered that my uncle Ron has been tested. He has one faulty carrier gene for the disease.
Similarly, my Aunt Lisa also has a single faulty carrier gene for the diseases. Actually, my uncle and aunt did not know that they had the carrier genes; until cousin Jake was diagnosed with the disease. This is because career genes do not cause any symptoms.
An innocent mistake
A few days ago after rushing Jake to the hospital after a sudden attack; my frustrated uncle lamented that the couple committed an innocent mistake of marrying. Now Jake will suffer the consequences for the rest of his life. He also pointed out; in his drunken stupor; that he ignorantly gambled with thalassaemia. It won. This is because Jake is the last born among the couple’s four children. Considering the mathematical probability of infection; the couple should have stopped at three.
Ignoring my uncle’s lamentations; I believe that recent breakthroughs in bone marrow transplantation will offer a cure for the disease as well as save my cousin from this terrible illness.
Thalidomide-Treatment or Killer Drug?
Recently I visited my Uncle Tom’s grave to lay some flowers and reflect on his passing one year ago. Uncle Tom died at the age of 49 making the family sad; as well as making the older folks to reflect on their ages. Even to comment that maybe they had over lived. The family felt robbed of a young and productive relative and his family was; especially devastated by his passing. However, in addition to dying at a rather young age, another thing that was most painful about Uncle Tom’s demise; was the pain he endured before he passed on.
My uncle was suffering from a cancer called multiple myeloma. This is a type of cancer that affects the white blood cells; the body’s defense mechanism. Apparently, the cancer causes abnormal white blood cells to accumulate in the bone marrow; hindering the production of normal blood cells. Also, as a result causing unimaginable problems and pain to the victim’s body.
However, the cancer is treatable; but not curable. The worst case scenario; such as my uncle’s is when the cancer relapses. This is when analog versions of the infamous drug thalidomide are used to inhibit tumor growth. Also to lessen pain. Ironically, Uncle Tom succumbed to pneumonic complications. These were related to the use of a drug called polymast; an FDA approved analog of the drug thalidomide.
The Painful Endurance
Before I describe Uncle Tom’s cries and gasps during his last days on earth; I must point out that my uncle was not a feeble man. Uncle Tom was a professional fireman. He was also the proud holder of a black-belt in martial arts.
Uncle Tom was diagnosed with this cancer when he was 46. The cancer was treated in the initial therapy using chemotherapy as well as other drugs. He was left bald and emaciated. But he seemed okay as he confidently proclaimed that he had beaten the cancer.
After the initial therapy Uncle Tom deemed himself healthy. He even ignored the medically recommended maintenance therapy. Sitting at the grass near his gravestone; I could almost see my uncle’s jubilant face claiming that he did not need any medication. However, the cancer relapsed one year later.
Nonetheless, after the cancer relapsed, the pain grew worse. The doctors recommended the use of polymast. My uncle; who had read almost everything regarding cancer treatment; was at first reluctant to use the medication. But as the pain worsened he surrendered and started using the drug. This is when we witnessed the adverse side effects associated with the drug. My uncle’s health deteriorated. He also became anemic.
Finally, he suffered from pneumonia. Although the doctors cannot accept the fact. We are sure that the new drug accelerated his demise instead of prolonging his life. Today as I recall my uncle’s last moments in this world; I cannot blame the doctors for administering the drug. This was because I know they did it for the best.
Nonetheless, I only hope that in future the adverse effects associated with such drugs are taken into consideration to avoid losses when expecting gains.
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