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:
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
4rdProff. 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)
