Thalassemia: Prevention is better than cure: what if the cure does not exist?

Every year 5000 children are diagnosed with Thalassemia with an increasing number of death tolls annually. However conditions can be made under control by creating awareness programs among our community and persuading them to understand the facts that first cousins marriages are the prime cause of the prevalence of the disease and proper government policies should be made along with decorous implementation of appropriate blood screening to further prevent endurance among our children and families.

                The soft and gentle smile on a mother’s face when she holds her baby for the first time in her arms is at large the greatest gift of nature to her and the entire family. Nevertheless, for some, at times, things don’t turn out to be fortunate, rather more miserable and rough. Many families suffer from agony when they see their toddler suffering from life taking maladies.  Each year around 5000 children are diagnosed with Thalassemia -major in Pakistan with the exclusion of many cases that remain un-reported and undiagnosed at the same time. However conditions can be made under control by creating awareness among our community and persuading them to understand the facts that first cousins marriages are the prime cause of this painful disease. Another point of consideration is that there is a dire need that our pharmacists also enroll themselves actively in such activities in order to acknowledge the people so that our community with the passage of time will no more suffer from such diseases and our children will lead very contented and healthy lives. As Pharmacists are the most accessible health-care professionals, by doing so, they can not only see the seeds of COMMUNITY PHARMACY which at the moment does not exist but also play a very vital role in communicating and lowering the burdens of diseases among people by educating them.

             There is no complete cure for Thalassemia but only the quality of life can be made better.

              However, with the striking development in science, concurrent drug modification and awareness – programs conducted by the joint collaboration of the Physicians, Pharmacists, and Pharmaceutical industries had allowed the common people to now think the very reasons responsible for the prevalence of the disease among the population.

              Before discussing the importance and significant advancements made in the field of medicine in order to palliate the pain of the Thalassemic patients along with the treatment trends that are being currently practiced to help fight this disease; it is also very important to have certain knowledge about the abstract THALASSEMIA as well.

            Thalassemia is a blood disorder that is passed down through the families, so it shows that THALASSEMIA is exclusively a genetically inherited disease. In this disease, the body makes an abnormal form of hemoglobin (Hb) .Hb is a protein in RBCs which is responsible for carrying oxygen. This will lead to excessive destruction of RBCs ultimately leading to anemia.

CAUSES INCIDENCE AND RISK FACTORS:  Hemoglobin (Hb) is made up of two proteins, α globin and β globin. Thalassemia occurs when the gene responsible  for expressing the production of the above mentioned proteins fails to do so due to defects in the gene (may be mutated or totally missing)

             The major risk factors of Thalassemia include:

◘ethnicity: Asian, Chinese, Mediterranean, African, American. 

◘Family history of the disorder

SYMPTOMS: Really severe conditions of α thalassemia major leads to still birth (death of unborn baby during birth or late stages of pregnancy). However, children with β thalassemia major (Cooley’s anemia) are normal at birth but develop severe anemia during the first year of life undergoing regular blood transfusions.

                    Other symptoms include bone deformities in the face, fatigue, growth failure, delayed puberty, yellow skin (jaundice). Moreover, such patients are more prone to get exposed to various infections and hepatitis due to multiple transfusions.

SIGNS AND TESTS:  After 6 months of a child’s birth he starts to show symptoms which can be alarming to a child’s parents leading to refer to a health care provider. ●A physical examination may reveal a swollen (enlarged) spleen.  ●A blood sample will be taken showing small and abnormally shaped cells under a microscope. ●CBC reveals anemia and a test named as Hb electrophoresis depicts abnormal form of Hb. ●Finally DNA analysis test is also performed in order to further confirm the presence of the disease.

                    Severe thalassemia can cause early death due to cardiomyopathies, damage to liver and endocrine system. Hence getting regular blood transfusion and therapy to remove iron from the body helps improve the outcome.

         The major issue regarding blood transfusions in children as well as adults was the iron overload, retarded growth and early deaths, usually between ages of 20 and 30 few years back. However, one can say that over the past 4 decades there have been dramatic improvements in survival for patients with thalassemia major.

        Now the question arises which were the things that contributed to such development? Well, the answer is quiet simple i.e. the development of chelators and chelating therapy since body has no inherent mechanism to remove excess iron. It wouldn’t sound good If we forget to the profound activities of the pharmacists, physicians and various pharmaceutical industries who worked day and night on different chemical agents, did a great deal of research on their pharmacological activities ultimately succeeded in the production of the chelators that had lessen the burdens of the disease.

      Chelators differ strikingly in side-effects profile, cost, tolerability and ease of adherence.  One by one we will be discussing the three most frequently used chelating agents nowadays in our health care systems namely:

◘Deferoxamine (Desferal DFO)-oral

◘Deferasirox (Asunra X-J)-parenteral

◘Defiriprone (Ferriprox)

◘   Hydroxyurea (Cap Hydrea) (Thal-intermedia)

According to a research conducted at Shiraz University of Medical Sciences, Shiraz, Iran:HU has good effects on increasing Hb levels in thalassemia intermediate patients (patients with mild clinical symptoms), thus freeing them undergoing blood transfusions and decreasing the risk of osteoporosis, extra medullary hematopoiesis, along with skeletal deformities and splenomegaly

        .Hence it can be concluded that HU can be a more beneficial alternative of blood transfusion because of high patient compliance (oral use), effective cost and last but not the least positive outcomes of clinical and hematological responses. 

         Deferoxamine mesylate (Desferal) (DFO) is a white to off-white powder supplied as vial containing 500 mg and 2 gm of deferoxamine in sterile lyophilized form freely soluble in water and slightly soluble in methanol; for IV, IM and SQ administration. It acts by binding to the free iron and removing it from the body via urine (vin-rose urine) as the urine appears red in color.

         DFO has shown safe and effective results in multiply transfused-patients in thalassemia major .If patients are provided with DFO therapy at young ages they can be prevented from lethal iron overload for at least two decades.

          Novartis announced the approval of Deferasirox (asunra) the first and only once-daily oral iron chelator-by the US Food and Drug Administration. It has been approved for the treatment of chronic Iron over load due to blood transfusion in adults and children age two and older.

          Deferoxamine is the only iron chelator administered as a drink(the tablets are dispersed in a glass of orange juice, apple or water).This is much more convenient for patients than the current standards being practiced(SQ infusion lasting 8-12 hours per night for 5-7 nights a week as ong as the patient is undergoing blood transfusion.

         Deferiprone is an oral iron chelator approved for use in Europe and Asia but not approved in US and Canada. However, It has compassionate use in US and emergency conditions. FDA approved Ferriprox in October 2011 and since then It has been used to excrete excess Iron from the body in blood transfusion dependent Thalassemic patients.
Approval is based on a reduction in serum ferritin levels. There are no controlled trials demonstrating a direct treatment benefit, such as improvement in disease-related symptoms, functioning, or increased survival.
      Hence, the development of various chelating agents had paved a way to a better life style to such patients. However, preventing the prevalence of this disease: Moreover, genetic counseling, prenatal screening, awareness program campaigns should be run. It’s a high time that resources should be generated to not only establish “ROLE OF COMMUNITY PHARMACISTS” but also provide opportunities to the pharmacists also to play an active role as one of the significant health care team members. This may help people with a family history of this condition that are planning to have children so that they can be secured from the hardships of pain of treatment and suffering.

 Author:              

Tooba Nizam

4^rdProff. Pharm-D

University of Karachi, Pakistan

 Always seek the advice of a physician or other licensed health care professional regarding any questions you have about your medical condition(s) and treatment(s)

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