INTRODUCTION Due to these reasons, this research

INTRODUCTION

      Genetic disorders have become one of the
main threats of human life nowadays. Ranging from a newly born child to an
adult one can be affected by these disorders. Their symptoms may appear after
birth or worse when a person is already adult. However, these disorders can be
predicted through ancestry or ethnicity. One of these genetic disorders is
thalassemia. It is a genetic blood disorders which occurs when hemoglobin
(oxygen-carrying molecules in the blood) can’t become synthesized by red blood
cells(Lockhart). It only gives different difficulties in the life of the
patients suffering from it. Also, it often leads to animia, fatigue, bone pain,
and liver dysfunction (Lockhart). Due to these reasons, this research aims to
provide the reader the knowledge about its different class, how someone
acquires this disorder and most importantly what are the early treatments of
this disorder.

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PHATOPHYSIOLOGY

       The word “thalassemia” came
from the greek word thalassa which means sea since it was first. So how can we
get this blood disorder? The answer is certainly due to this reason. The
disorder can be passed through generations which mean that at least one of your
parents is a carrier of the disease. To further understand the genetic problem
of this disorder, Holm and Cherney said started in Mediterranean and then
spread out in the Asian countries (medical dictionary).According to Holm and
Sherly, this blood disorder happens when the body produces an abnormal form of
hemoglobin which is a protein molecule in red blood cell that carries oxygen.
They added that the disorder redounds in the excessive destruction of red blood
cell which leads to anemia that it is due to one of the two factors which are
the genetic mutation and the deletion of certain key fragments.

Thalassemia
is categorized into different forms according to its severity. Minor
thalassemia is less severe form of the disorder but there are two primary types
of thalassemia disease UCSF). These are the alpha and beta thalassemia disease.
Alpha thalassemia happens due to the insufficient expression of 1of the 4
alpha-globin genes on the chromosome 16 of the human body (Cheerva). A normal
human body has 4 alpha-globin genes encoded on the chromosome 16(2 on each
chromosome) likewise, gamma and beta-globin genes are encoded on the chromosome
11 but because of the two reasons: mutation or deletion- this system alters and
thalassemia show up(Cheerva,Holm and Cherny).Each of these forms of thalassemia
has different major categories. For alpha thalassemia, two of its types are
Hemoglobin H disease and Hydrops Fetalis and for beta thalassemia, the two of
its types are Cooley’s anemia and thalessemia intermedia (Holm and Cherny). Hemoglobin
H disease happens during the three-gene deletion which causes the significant
production of hemoglobin H and the hydrops fetalis which happens during the
four-gene deletion that causes the production of hemoglobin Bart’s. On the
other hand, the deficient production or synthesis of beta globin genes result
to different forms of beta thalassemia in which when  the production of beta and alpha globin is
severely deficient, thalassemia major or Cooley’s disease occurs which will not
give any symptoms at birth but after 6 months the symptoms appear and if the
production of beta chain is not severely reduced the beta intermedia occurs and
that people suffering from this thalassemia do not require lifelong transfusion
that will be discussed below(Muncie and Campbell).

.   The exact form you have will affect the
severity of your symptoms and your outlook (Holm and Cherney). If one of your
parents is a carrier of the disease, you are more likely to have a minor
thalassemia in which the sypmtoms are not so prevalent and in some instances
you will also become a thalassemia carrier only but if both of your parents are
carrier of the disorder, most likely you will have a severe thalassemia and
probably suffer from its sypmtoms according to Holm and Cherly.

CLINICAL
MANIFESTATION

         If a
patient has a mild thalassemia or minor thalassemia, he wouldn’t determine it
as soon as he will be diagnosed. And the worst is it might become severe if the
patient has taken the contraindication of the disorder. There’s a patient
namely Zhai who claimed to have a thalassemia disorder. She is a newly
registered nurse and unfortunately was diagnosed as a thalassemia case. She
said that when she was 5 years old she was so sickly and always subjected to
blood transfusion. Her doctor didn’t notice the true illness behind the anemia
she suffers. She was just adviced to take iron supplement for 16 years without
knowing that excessive intake of iron can trigger the organs that were affected
by the disease which makes it more complicated. She looks pale, sickly and
stress due to over thinking of her situation. Her iron level is high and needs
to have a therapy but it is costly so until now she is looking for the
alternative means to gain money for her therapy.

In
general, the direct effects of Thalassemia in the human body vary depending on
the type of thalassemia a person has. In beta thalassemia, its overall effect
on the organs and tissues of the body is due to the profound anemia which is the byproducts of hemolysis, and the intramedullary and
extramedullary expansion of erythroid marrow progenitors. Patients suffering
from this thalassemia are more likely to have blood-borne infection such as
viral hepatitis from blood transfusion or progressive diversion of caloric
resources to bone marrow expansion (Benz). For alpha thalassemia patients, they
would likely to become symptomatic at birth and many others present with
neonatal jaundice or anemia Cheerva). If the thalassemia of the patient is mild
they will need to regularly have blood transfusion in order to survive just
like the case of Zhai. On the other hand, major thalassemia won’t let the
patient to survive for a longer time.

 

MEDICAL
MANAGEMENT

           Thalassemia
is a genetic disorder which means that it must undergo into drastic processes
in order to be treated. It cannot only be supplemented by proper lifestyle although
proper lifestyle is a weapon to maintain an ideal health. Several treatments of
this disorder are being offered throughout the country and worldwide. It’s just
that these treatments are so costly. The proper treatments of this disorder are
blood transfusion, chelation, bone marrow transplant, and many other more to
identify (Muncie and Campbell). Blood transfusion in a person suffering from
thalassemia is absolutely necessary because it replenishes the inadequacy of
hemoglobin production due to anemia (Muncie andCampbell). The second treatment
is chelation. Chelation is the process of removing iron overload from blood transfusion.
This kind of therapy is not toxic but it is totally expensive and thier are
side effects such as gastrointestinal pain (Muncie and Campbell). The third
treatment is called bone marrow transplantation.This method uses high-dose
chemotherapy to kill the thalassemia producing cells in the bone marrow by
replacing the infected marrow with a healthy bone marrow from a donor.
Basically, this method is a type of stem cell (UCSF). The next one is the
indocrinopathies which is a therapy that is effective for hypoganodism (Muncie
and Campbell). Another way of treating this disorder is through daily oral
supplementation of 1mg folic acid is needed for folate deficiency.

 

CONCLUSION

          To
wrap up the preceding paragraphs, thalassemia disorder is not that easy to treat
which may bring absolute hindrance for individuals suffering from it. This genetic
disorder can be passed from parents to offspring and the severity depends on its
types which are defined by the mutation or deletion of specific globin genes or
globin chains. In some instances, the symptoms aren’t appear at birth and might
become prevalent unexpectedly through time which means that it must be
diagnosed as immediate as possible in order to be treated. We can also consider
the region where this disorder becomes common and the ancestry or ethnicity we
belonged to know whether we have the potential to have this kind of disease to
save our future family.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

REFERENCES

Benz, E. J., Jr. (2011). Clinical
manifestations and diagnosis of the thalassemias. Retrieved

    
   January 23, 2018, from
http://cursoenarm.net/UPTODATE/contents/

       
mobipreview.htm?37/33/38417?source=see_link

 

Cheerva, A. C. (2017). Pediatric:General
Medicine. Retrieved January 23, 2018, from   

        
https://emedicine.medscape.com/article/955496-overview#a2.

 

Holm, G., & Cherney, K. (2017).
Thalassemia. Retrieved January 24, 2018, from                                                                                            

        
 https://www.healthline.com/health/thalassemia.

l-Rafaie, F., Wonke, B., Holffbrand, A.,
Wickens, D., Nortey, P., & Kontoghiorghes, G.

        
(2009). Efficacy and possible adverse effects of the oral iron chelator
1,2- dimethyl-3-

    
    hydroxypyrid-4-one (L1) in thalassemia
major. Retrieved January 23, 2018, from

     
   http://www.bloodjournal.org/content/80/3/593.short?sso-checked=true

 

Muncie, H. L., Jr., & Campbell, J.
S. (2009). Alpha And Beta Thalassemia. Retrieved

        
January 23, 2018, from https://www.aafp.org/afp/2009/0815/p339.html.

What is Thalassemia? (n.d.). Retrieved
January 23, 2018, from

 

       
http://thalassemia.com/what-is-thal.aspx#gsc.tab=