1

Arab Amaerican University

Jenin

Physics Department

Thalassemia
Thalassemia is Form of Inherited Outosomal

Yasmeen.I.Jaradat,Fatima.M.Abo
Alrob,Noorelhuda.H.Abo Alrob,Kawthar Sharafe
Dr.Ayman Yosef.

Contect

Abstract3
Introduction..3
Research Problem.5
Research Objictive6
Justifications..6
Research Questions and Hypothesis11
Methodolgy.11
Literature Review12
Results and recommendation....15
List or references.16

Thalassemia
form Thalassmia is of inherited outosomal

Abstract
This research speakes about Thalassemia.Many blood disease and most famously the
sickest hemolysis and isone of most wide spread in community is thalassemia.
The researcher aims to provide a comprehensive description of how the incidence of the
disease and srmptoms and effects of the community to give hope for each infected with
disease through the definition of threatment.
As a result of this research bear in mind the danger of suffering of the people of this
disease and cells on the international community to be more awareness and understanding
of this disease and decision makers to give more attention to the budgets of the disease.

Introduction
Recessive blood disorder charaterized by abnormal formation of hemoglobin,abnormal
hemoglobin formed results inproper oxygen transport and destruction of red blood cells1

Davidsans 20th edition London Axford Newyork Philadelphia 2008 page 1038 elsevier

Thalassemia caused by variant or missing genes that affect how the body makes
hemoglobin the protin in red bloods cells loss of one gene(a,a,a,a),tow genes
(a,a,a,a),three genes [a,a,a,a] or four genes [a,a,a,a] from chromosome.
In beta thalassemia defective production usually results from disabling point mutation
causing no(B) or redused (B) beta chain prodution.

Failure to synthesise beta chains is the most common type of Thalassemia and is seen in
highest frequency in the Mediterranean area heterozygotes have Thalassemia minor
acondition in which there is usually mild amaemia and little or no dinical disability .
Homozygotes Thalassaemia major either are unable to synthesise haemoglobin A or at
best produce very little and after the first four months of life develop a profound
hypochromic anaemia .
Thalassemia can cause complications including iron overload bone deformi
and cardiovascular illness ,however this same inherited disease of red
blood cells may cofer adegree of production against mataria
(specifically, malaria caused by the protozoan parasite plasmodium
falciparum , which is or was prevalent in the region where the trait is
common ,this selective survival advantage of carriers
Known as heterozygous advantage my be responsible for perpetuating
the mutation in population in the respect the various Thalassemia.

Resemble another genetic disorder affecting hemoglobin

Thalassemia resulted in 25000 deaths in 2013 down from 36000 deths
in 1990 .

Research problem
In 1990 the number of people who died in Thalassemia disease is 36000.
Do you with progress of science and the last number of deaths ?
Yes through early diagnosis, flour, treatment has become the number of death 25000
In 1925 in united stortes the American prodution2 cooley and lee described a disease
named cooleys anaemia but lighter that become known as (Lamalattiadi RieHi GreppiMicheli)
And today as Thalassemia intermedia3
In 1943 two known italian haematology is Ezio silvestroni and Ida Bianco have described
a hereditary anomoly individualized in healthy subjects that has been microcitemia
immediately after the microcitemia discovery silvistroni and Bianco noticed with along
series of researcher that cooleys anaemia come from the homozygous condition that
result in a sick child and which is born only if both his parent transmit their
microcitemica alteration
What is the benefit of location and sctupulously disease ?
To know cause of the disease and to avoi happen
Contacted Dr.Omar to tall me the experience he saw a satisfaetory situation said the
doctor had frequented the hospital a five-year-old called Islam were blood transfusion
has been his health getting worse day by boy due to complication of blood transfusion
and no solution for his condition only bone marrowfransplant
The problem of planting bone marrow transplant expensive it needs handred twently
thousand dollars while his father only to eighty thousand dollars after a few weeks ino
longer see the child asked him told me had died.

2
3

Blod prevention _centromicrociteme Roma page 853 Elsevier

Clinical medicine Oxfford 2007 Elsevsir page 2018

Research objective
1.The researcher aims to provids a comprehesive understanding of Thalassemia Disease
and type of Thalassemia.
2.In this research the researcher purposes to convince the readers the Thalassaemia is
iherieted disease .
3.The objective of the research documenting the parfies scientific between singled search.
4.To know cause of the disease and to avoid happen.

Analysis and Discussion

In addition to the which medical information was run by we have
benefited from such of the symptoms and treatment more than what
caught my eye is that disease is transmitted through inherited
Autosomal recessive the manifest only in homozygous.

The type of Thalassemia is:

1. 4 Thalassemia4:
Divided to:
a. Thalassemia silent :in this kind one gene deletion so is Asymptomatic.
b. Thalassemia trait two gene deletion like symptom iron deficiency.
c.Hemoglobin H Disease three genes deletion moderated microcyfic hemolytic anemia.
d.fetal5 hydrops four genes deletion H.F and fetal death.
2.5 Thalassemia:
a.Minor Thalassemia enegere mutation is hort RBcs survival without hemolysis.
b.Major two genes mutation.
a.Features of anemia:
-Anorexia Easy fatiguability -Headache faintiny -Breathlessness -finifus -weightloss
b.Features chronic hemolysis:
-Tinye of jaundice -Splenoheptomegaly Skeletal chanyes -call bladder stor
c.Hemosiderosis irondeposition in:
-Skin:bronzed color
-Heart:cordiomyopathy
-Pancreas:diabetes mellitus
-Liver:cirrhosis
-Pitaitary:growth retardation

4
5
6

[alpha}
{beta}
Nelson 2010 newyourk page 243

Un affected father

un affected mother

All un affected

carrier

50% carrier

un affected

50% unaffected

Un affected

affected

100% carrier

carrier

25% unaffected

25%affected

carrier

50% carrier

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50% carrier

50% affected

100%

Research questions and hypothsis

1-What type of Thalassemia
2-What are the symptoms6?

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3-What are the best trind of diagnostic test and treatment investigation?
4- What is the probability of having a Thalassaemia minor child if two minors are
married?
5-What is the probability of having a Thalassaemia major child if two minors are
married?
6- What is the probability of having a Thalassaemia minor marries a normal(non
Thalassaemia) person?

Methodology
The researcher employed a quantitive research design to convince the reader the
identified stepwise process current to display the orientation of people from the physical
and biological sciences and from various enyineering disciplines to analyze disease
quantitative.
The main tool used in this research for collecting data is the medical information which
its results measured quantitatively .
The researcher has executed the following experimental procedur of Thalassemia 7affect
approximately 4.4 of every 10000 live birth thyoughout the world ,It causes males and
females to inherit the relevant gene mutation equally because it follows an autosomal
pttern of inheritance with no preference for gender.
Approximately 5% of the world wide population has a variation in the [alpha] or
[beta] part of hemoglobin molecule although not all of these are symptomatic and
some are known as silent carriers only 1.7%of the global population has sign as gene
mutation known as Thalassemia trait .
1- Thalassemia is particularly common among populations of Southeast Asian descent.
The prevalence of different population groups according of the world is:
a-America :0-5% of population has trait, up to 40%carrier.
b-Eastern Mediterranean :0-2%is trait, 60%carrier.
c-Europ: 1%-2%of population trait ,12% carrier.
d-Southeast Asia:1-30%is trait ,40%carrier.
e-Sub-Sharan African:0%ofthe population has Thalassemia ,50%is carrier.
2- Thalassemiais common among population of Mediterranean ,Africa and South Asia.

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a-Americas:0-3%.
b-Eastern Mediterranean:2-8%/
c-Europe:0-19%.
d-Southeast Asia:0-11%.
e-Sub-Sarharan Africa:0-12% of populayion is effected gene mutation.

Literature Review
Think for amoment about some of our normal daily activites of university runing to
lectures memorizing the answer to attest question calculation mathematical equation ,
speaking for friends, or listen to your teacher presentation
Thalasemia disease of disease in our current society and it was therefore to bedefintion
of people in disease is Autosomal ressive disorders due to defection globin chain
production
Two type Thalassemia and Thalassemia both and Thalassemia are often innerited
Anestimated 60 _80 million people in the world carry the Thalassemia trait
This a rough estimate :the actual number of thofe with Thalassemia major is unknown
due to the prevalence of Thalassemia in less developed countries
Increase Thalassemia may become a very serious problem in the next 50 years
One that will burden the worlds blood bank supplies and the health system ingeneral an
estimated 1000 people live Thalassemia major in united states and unknown number of
carriers because of the prevalence of the disease in countries with little knowledge of
Thalassemia
Clinical picture is features of anemia and chronic hemolysis and iron deposition
Thalassemia is a serious inherited disorder,children with Thalassaemia can not make
enough red blood cells.
The red blood cells that are produced are nearly empty .There are two forms of
Thalassaemia ,Alpha Thalassaemia and Beta Thalassaemia if both partners carry
Thalassaemia ,there is danger for your future children this study is designed to find out
the relationship between the disease and some variables and compare between incidence
in males and females.A random survey was done center and central Pediatrics Hospital

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in Baghdad from 1-1-2004 to 31-2004 .One hundred patients were analyzed for their age
six ,blood group ,number of patient in the same family .
The result have shown that the higher incidence of disease was thalassaemia major of age
1-9 years and the higher incidence of blood group was O+ more than other group of
blood .And the males have higher incidence compared to females.
Thalassaemia is the most common inherited blood disorder in the world. According to
6
World Health Organization (WHO) at least 30% of Bangladesh population are carrions
of Beta thalassaemia and 4.0% are carriers of Hb-E in Bangladesh. It is presumed that
approximately 6000 thalassaemiatic children are born each year in Bangladesh. It is
passed on from parents to their children, causing an inability to produce adequate amount
of haemoglobin and leading to severe haemolytic anaemia. Haemoglobin is the substance
that gives blood its red colour; transport O2 from the lungs to the tissues and carries CO2
from the tissues to the lungs. Symptoms appear a few months after birth, and without
treatment death will ensue in early childhood. Treatment may extend the life into early
adulthood but is very cumbersome and costly, mainly consisting of blood transfusions
every 2-4 weeks and administering desferrioxamine by continuous infusion for 10-12
hours daily using a pump, to remove excess iron from the body. Regular blood
transfusion and iron removal treatment cost US$ 140 - US$ 150 per month which exceeds
the monthly income per capita of the parents (US$, 135, HIES Report-2010). Bone
Marrow Transplant (BMT) which may cost US$ 20,000.00 is quite unimaginable for the
poor parents. As a result the Infant Mortality Rate (IMR) increasing along with death of
the mothers at the labour period. Though Thalassaemia is a silent killer, actions are little
from both government and non government side to introduce it among the people of all
classes and no pragmatic steps have been mentioned in the Health, Nutrition and
Population Sector Programme (HNPSP) Proposal of a score combining red blood cell
indices for early differentiation of beta-thalassemia minor from iron deficiency anemia
This study evaluates the diagnostic reliability of 11 red blood cells indices, together with
our new index, referred to as '11T', in differentiation of beta-thalassemia minor (BTm)
from iron deficiency anemia (IDA). A total of 129 patients with microcytic anemia were
involved in a retrospective study, 80 with IDA and 49 with BTm. Using an automatic
program, we calculated 11 discrimination indices and a new score, 11T, based on the
results of these 11 tests. To confirm the interest of 11T, we performed a prospective study
with 53 patients. 11T was most effective in differentiating BTm from IDA: 11T had the
highest Youden's index (83%) and the best percentage of correctly identified patients
(93%) and gave optimal performance in our prospective study. We proposed a score, 11T,
which is able to discriminate between IDA and BTm with high specificity and high
sensitivity in order to conduct the appropriate confirmatory examination.

http://www.healthwaysbd.org

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Thalassaemia affected children from the marginalized section are the main beneficiaries
of HF.Through our activities, we want to create awareness among the parents and create a
favorable environment for the thalassaemic children where they can lead an agony free
life, reduce birth rate of thalassaemia affected children, extend treatment facilities, make
the affected children and parents self-reliant, create a strong network with the national
and international thalassaemia organizations, research on thalassaemia, make people
known to thalassaemia as a serious disease, include thalassaemia in (HNPSP).

Proposal 7of a score combining red blood cell indices for early differentiation of betathalassemia minor from iron deficiency anemia This study evaluates the diagnostic
reliability of 11 red blood cells indices, together with our new index, referred to as '11T',
in differentiation of beta-thalassemia minor (BTm) from iron deficiency anemia (IDA). A
total of 129 patients with microcytic anemia were involved in a retrospective study, 80
with IDA and 49 with BTm. Using an automatic program, we calculated 11
discrimination indices and a new score, 11T, based on the results of these 11 tests. To
confirm the interest of 11T, we performed a prospective study with 53 patients. 11T was
most effective in differentiating BTm from IDA: 11T had the highest Youden's index
(83%) and the best percentage of correctly identified patients (93%) and gave optimal
performance in our prospective study. We proposed a score, 11T, which is able to
discriminate between IDA and BTm with high specificity and high sensitivity in order to
conduct the appropriate confirmatory examination.
Background87: In Tunisia, thalassemia and sickle cell disease (SS) represent the most
prevalent monogenic hemoglobin disorders with 2.21% and 1.89% of carriers,
respectively. This study aims to evaluate the diagnosis reliability of 12 red blood cell
(RBC) indices in differentiation of -thalassemia trait (-TT) from iron deficiency
anemia (IDA) and between homozygous SS and sickle cell thalassemia (ST). Methods:
The study covered 384 patients divided into three groups. The first one is composed of
145 control group, the second consists of 57 -TT and 52 IDA subjects and the last one
with 88 SS and 42 ST patients. We calculated sensitivity, specificity, positive-predictive
values, negative-predictive values, percentage of correctly identified patients and
7
8

https://www.researchgate.net Alexander janal

Chaaim A sahli

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Youden's Index (YI) for each indice. We also established new cut-off values by receiver
operating characteristic curves for each indice. An evaluation study was performed on
another population composed of 106 -TT, 125 IDA, 31 SS, and 17 ST patients. Results:
Srivastava Index (SI) shows the highest reliability in discriminating -TT from IDA at
5.17 as a cut-off and also SS from ST with 7.7 as another threshold. Mentzer Index (MI)
and RBC appear also useful in both groups with new cut-offs slightly different from those
described in literature for -TT and IDA. Conclusions: The effectiveness and the
simplicity of calculation of these indices make them acceptable and easy to use. They can
be relied on for differential diagnosis and even for diagnosis of -TT with atypical HbA
levels.

Results and recommendation

In this final part the results and recommendation of research are drawn in agreement with
the research objectives
My recommendation is direct to decision makers to put an infrastructurs from our
national budgest to treat Thalassemia baying medicines employ more qualified doctor
also provide drugs against diseases in order to reach to some promotion in the medical
field
Tests should be medical analyzes and the detection of Thalassemia before marriage
The research concluded that the Thalassemia the genetic diseases which lead to death and
the reduction of the disease through medical test before marriage and the prorision of
treatment for the researcher only care about the readers only especially who suffering
from Thalassemia disease to under found their disease in the right way and give the hope
that their.

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List or references

1-Baby nel son pediatries_ 2008_ page 406_ London

2-Baily short forctice of medical _2001_ page 1358_ Newyork
3-Blod prevention centromicrcciteme roma_2010 _page 853_ Elsevier
4-Clinical medicine Oxford _2007 _Elsevier_ page 2018_ London
5-Davidsons 20th Ediation _London Oxford- Newyork Philadelphia _2008 _page 1038
Elsever
6-Nelson 2010 _Newwyork _page 243 _Elsevier
7-www.newsmedical.net
8-UK_ Thalassimia Soceity Publecation_All you need to know about being a carrier of
Best_Thalassemia_3rd Edition_page 15_1995.
9-WWW.Werthah.com/disease/blood/Thalassemia Thtm..10K.
10-htt;//WWW.Beta-Thalassemia.
11-WWW.Sehha .Com /disease/blood/Thalassemia/2htm 8k.
12-Nelson Textbook of pediatric_MD 16 Edetion_page:643-652,2000
13-http:/WWW.vbulletin.com.
14-WWW.Alwatan.Com.sa/daily/2002_03_21/affair.Htm-40k
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16- Maghfiroh, Riska, Okatiranti Okatiranti, and Ria E. Sitorus. "GAMBARAN HARGA
DIRI PASIEN THALASEMIA REMAJA (usia 14-21 tahun) DI KLINIK HEMATOONKOLOGI RSUP Dr. HASAN SADIKIN BANDUNG."KEPERAWATAN 2.2 (2016).
17-Fatmasyithah, Vina, and Mulyati Sri Rahayu. "GAMBARAN PENDERITA
THALASEMIA DI RUANG RAWAT ANAK RUMAH SAKIT UMUM CUT
MEUTIAACEH UTARA TAHUN 2012." JURNAL EDUKASI DAN SAIN BIOLOGI
(JESBIO) 3.5 (2016).