SEMINAR

ON
THALASSEMIA

GUIDED BY
MR.SHINE VARGHESE KURIAN
ASSOCIATE PROFESSOR

PRSENTED BY
MR.SACHIN DWIVEDI
M.SC. NURSING FINAL YEAR
THALASSEMIA

Thalassemia is an inherited blood disorder that affects the

body's ability to produce hemoglobin and red blood cells. A
person with thalassemia will have too few red blood cells
and too little hemoglobin, and the red blood cells may be too
small. The impact can range from mild to severe and life-
threatening.

Around 100,000 newborns are delivered each year with

severe forms of thalassemia. It is most common with
Mediterranean, South Asian, and African ancestry.
 MEANING

Thalassemia is an inherited
disease of faulty synthesis of
hemoglobin. The name is derived
from the Greek word "thalassa"
meaning "the sea" because the
condition was first described in
populations living near the
Mediterranean Sea; however, the
disease is also prevalent in Africa,
the Middle East, and Asia.
(Source: Genes and Disease by
the National Center for
Biotechnology)
 DEFINITION

Thalassemia describes a group of

inherited disorders characterized by
reduced or absent amounts of
hemoglobin, the oxygen-carrying
protein inside the red blood cells.
There are two basic groups of
thalassemia disorders: alpha
thalassemia and beta thalassemia.
These conditions causes varying
degrees of anemia, which can range
from insignificant to life threatening.
-MEDICAL DICTIONARY.
INCIDENCE
Thalassemia affects approximately 4.4
of every 10,000 live births throughout
the world.
As of 2013, thalassemia occurs in
about 280 million people, with about
439,000 having severe disease.
It is most common among people of
Italian, Greek, Middle Eastern, South
Asian, and African descent.
Males and females have similar rates
of disease. It resulted in 16,800
deaths in 2015, down from 36,000
deaths in 1990.
 CAUSES
Thalassemia is caused by mutations in the DNA
of cells that make hemoglobin the substance
in red blood cells that carries oxygen
throughout body. The mutations associated
with thalassemia are passed from parents to
children.
Thalassemia disrupts the normal production of
hemoglobin and healthy red blood cells. This
causes anemia. With anemia, blood doesn't have
enough red blood cells to carry oxygen to
tissues leaving fatigued.
TYPES OF THALASSEMIA

Alpha
Thalassemia

Beta
Thalassemia
 Alpha Thalassemia
Alpha thalassemia is the result of
changes in the genes for the alpha globin
component of hemoglobin.
Thalassemias result in decreased
alpha-globin production, therefore fewer
alpha-globin chains are produced,
resulting in an excess of chains in
adults and excess chains in newborns.
The excess chains form unstable
tetramers (called Hemoglobin H or HbH
of 4 beta chains), which have abnormal
oxygen dissociation curves. Four genes
are involved in making the alpha
hemoglobin chain.
CONT..
One mutated gene, Child have no signs or symptoms of thalassemia.
But, Child are a carrier of the disease and can pass it on to his/her
children.
Two mutated genes, Child thalassemia signs and symptoms will be mild.
This condition may be called alpha-thalassemia minor, or Child may be
told you have an alpha-thalassemia trait.
Three mutated genes, Child signs and symptoms will be moderate to
severe. This condition is also called hemoglobin H disease.
Four mutated genes, the condition is called alpha-thalassemia major or
hydrops fetalis. It usually causes a fetus to die before delivery or a
newborn to die shortly after birth
CAUSES

Mutation in the DNA of cells that produce hemoglobin

Inheritance
Pathophysiology
thalassemias result in decreased alpha-globin production,

Fewer alpha-globin chains are produced,

Resulting in an excess of chains in adults and excess chains in newborns.

The excess chains form unstable tetramers (called Hemoglobin H or HbH of 4 beta
chains) which have abnormal oxygen dissociation curves.

The excess chains form tetramers which are poor carriers of O2 since their affinity
for O2 is too high so it is not dissociated in the periphery.

Homozygote 0 thalassemias, where there is lots of 4 but no -globins at all

(referred to as Hb Barts),

Often result in still birth.

BETA THALASSEMIA
Beta thalassemia is a genetic blood disorder that
reduces the production of hemoglobin.
Beta Thalassemia

Specifically, it is characterized by a
genetic deficiency in the synthesis
of beta- globin chains.
after birth.
Beta Thalassemia - (-
thalassemias) are a group of
inherited blood disorders caused by
reduced or absent synthesis of the
beta chains of hemoglobin resulting
in variable phenotypes ranging from
severe anemia to clinically
asymptomatic individuals.
Types

Thalassemia Major
(Cooley's anemia)
Thalassemia Minor
-severe form of beta
thalassemia - presence of one normal
gene and one with a
- presence of two mutation
abnormal genes that
cause either a severe - causes mild to
decrease or complete moderate mild
lack of beta globin anemia.
production.
Etiology

Beta thalassemia is caused by a

deficiency of Beta globin inherited in
an autosomal recessive pattern, which
means both copies of the
HBB(Hemoglobin beta) gene in each
cell have mutations.
The parents of an individual with an
autosomal recessive condition each
carry one copy of the mutated gene, but
they typically do not show signs and
symptoms of the condition.
Etiology-cont..

A lack of beta-globin leads to a reduced amount of

functional hemoglobin. Without sufficient
hemoglobin, red blood cells do not develop
normally, causing a shortage of mature red blood
cells.

The low number of mature red blood cells leads to

anemia and other associated health problems in
people with beta thalassemia.
PATHOHYSIOLOGY
thalassemia occurs when there is a quantitative reduction of globin chains that are
usually structurally normal.

They are caused by mutations that nearly all affect the globin locus and are
extremely heterogeneous. Almost every possible defect affecting gene expression at
transcription or post-transcriptional level, including translation, have been identified
in thalassemia.

These genetic defects lead to a variable reduction in globin output ranging from a
minimal deficit (mild + thalassemia alleles) to complete absence ( thalassemia).
CLINICAL MANIFESTATION:
Thalassemia minor- characterized by mild anemia
Symptoms of beta thalassemia major appear in the first two years
of life.
Fatigue and weakness
Pale skin or jaundice (yellowing of the skin)
Protruding abdomen with enlarged spleen and liver
 CLINICAL MANIFESTATION:
Dark urine
Abnormal facial bones and poor growth
A poor appetite.
Adolescents with the severe form of beta
thalassemia may experience delayed
puberty.
CLINICAL MANIFESTATION:
Fatigue
Weakness
Shortness of breath
Pale appearance
Irritability
Yellow discoloration of skin (jaundice)
Facial bone deformities
Slow growth
Abdominal swelling
Dark urine
The signs and symptoms client experience depend on the type and severity of
thalassemia client have. Some babies show signs and symptoms of thalassemia
at birth, while others may develop signs or symptoms during the first two years
of life. Some people who have only one affected hemoglobin gene don't
experience any thalassemia symptoms.
DIAGNOSTIC EVALUATION:
Family History: Thalassemia is passed
from parents to children through
mutated hemoglobin genes. If you have
a family history of thalassemia, you
may have an increased risk of the
condition.
Blood Test: Most children with
moderate to severe thalassemia show
signs and symptoms within their first
two years of life. If your doctor
suspects your child has thalassemia,
he or she may confirm a diagnosis
using blood tests.
 Prenatal testing:

Testing can be done before a baby is

born to find out if he or she has
thalassemia and determine how severe
it may be.

1. Chorionic villus sampling. This test is

usually done around the 11th week of
pregnancy and involves removing a tiny
piece of the placenta for evaluation.
2.Amniocentesis.
Assisted reproductive technology:

A form of assisted reproductive

technology that combines
preimplantation genetic diagnosis
with in vitro fertilization may help
parents who have thalassemia or
who are carriers of a defective
hemoglobin gene give birth to
healthy babies. The procedure
involves retrieving mature eggs
and fertilizing them with sperm in
a dish in a laboratory. T
MANAGEMENT
Mild thalassemia: people with thalassemia traits do not require medical
or follow-up care after the initial diagnosis is made.

People with -thalassemia trait should be warned that their condition

can be misdiagnosed as the more common iron deficiency anemia . They
should avoid routine use of iron supplements; iron deficiency can
develop, though, during pregnancy or from chronic bleeding.

Counseling is indicated in all persons with genetic disorders, especially

when the family is at risk of a severe form of disease that may be
prevented.
CONT.

o BLOOD TRANSFUSIONS :

People with severe thalassemia require medical

treatment. A blood transfusion regimen was the
first measure effective in prolonging life.
PHARMACOLOGICAL
MANAGEMENT
Multiple blood transfusions can result in iron overload. The
iron overload related to thalassemia may be treated by
chelation therapy with the medications deferoxamine,
deferiprone, or deferasirox. These treatments have resulted
in improving life expectancy in those with thalassemia major.
 Treatment

Treatment for beta thalassemia involves iron chelation.

1. Deferoxamine
2. Deferasirox

Deferoxamine is an intravenously administered chelation agent.

Desferal (deferoxamine) chelates iron by forming a stable complex
that prevents the iron from entering into further chemical
reactions. It readily chelates iron from ferritin and hemosiderin
but not readily from transferrin; it does not combine with the
iron from cytochromes and hemoglobin. It does not cause any
demonstrable increase in the excretion of electrolytes or trace
metals.
DEFEROXAMINE - INJECTION
BRAND NAME(S): Desferal
Deferoxamine is an iron-binding agent
that belongs to a class of drugs known as
heavy metal antagonists. It works by
helping the kidneys and gallbladder get rid
of the extra iron.

Mechanism of Action
Deferoxamine works in treating iron
toxicity by binding trivalent (ferric) iron
(for which it has a strong affinity),
forming ferrioxamine, a stable complex
which is eliminated via the kidneys.
Adverse Effects
Hypotension (with too rapid IV infusion)
Pulmonary edema with over 24 hr IV infusion
Anaphylaxis (rare)
Renal failure
Hepatic dysfunction
Yersinia enterocolitica, Y. pseudotuberculosis, and fungal infections
Cautions
In acute iron toxicity, give IV only to patients with cardiovascular collapse or in
shock
Do NOT administer by rapid IV
Increased serum creatinine (possibly dose related); acute renal failure and renal
tubular disorder reported
NOT a substitute for standard measures generally used in iron toxicity (eg, induced
emesis, gastric lavage)
Risk of potentially fatal infections
Dosing Forms & Strengths
Powder for injection
500mg/vial
2g/vial

Acute Iron Poisoning

Initial 1 g IM (ALL patients not in shock) or slow IV infusion (ONLY
patients with cardiovascular collapse or shock), THEN;
500 mg IM/IV q4hr x2, THEN;
Depending on clinical circumstance, may administer additional doses of
500 mg IM/IV q4-12hr PRN;
IV infusion rate: initial 1 g at 15 mg/kg/hr, all subsequent doses no more
than 125 mg/hr;
No more than 6 g/day (IM or IV), but in severe cases should continue
infusion up to 24 hours
Surgical Treatment

Splenectomy- decrease transfusion

requirements
Cholecystectomy- Patients with thalassemia
minor may have bilirubin stones in their
gallbladder and, if symptomatic, may require
treatment. Perform a cholecystectomy using a
laparoscope or carry out the procedure at the
same time as the splenectomy.
Deferasirox- Exjade

Mechanism of Action

Exjade (deferasirox) is an orally active chelator that is

selective for iron (as Fe3+). It is a tridentate ligand that binds
iron with high affinity in a 2:1 ratio. Although deferasirox has
very low affinity for zinc and copper there are variable
decreases in the serum concentration of these trace metals after
the administration of deferasirox.
 Adverse Effects

Serum creatinine increase (dose related)

Proteinuria
Pyrexia
Cough
Influenza
Rash
Respiratory tract infection
Bronchitis
ALT increased
Acute tonsillitis
Rhinitis
Anaphylaxis
Angioedema
Cytopenias, including agranulocytosis, neutropenia and thrombocytopenia;
leukocytoclastic vasculitis
Precautions

Do not take with aluminum-containing antacids

Concomitant cholestyramine -Coadministration with
a single dose of cholestyramine decreases deferasirox
AUC by 45%; avoid concomitant use. If
coadministration is necessary, consider increasing
initial deferasirox dose to 30 mg/kg and monitor
serum ferritin levels and clinical responses for further
dose modification.
Risk of hepatic failure, some with fatal outcome;
most occurred with age >55 yr and with comorbid
conditions (eg, liver cirrhosis, multiorgan failure)
Dosing Forms & Strengths

Tablets
125mg
250mg
500mg

Iron Overload Due to Blood Transfusion

20 mg/kg PO qd, titrate based on serum ferritin, not to exceed
30 mg/kg qd
Coadministration with potent UGT1A1 inducers (eg, rifampin,
phenytoin,phenobarbital, ritonavir) or cholestyramine:
Consider increasing intial dose to 30 mg/kg; these drugs
decrease systemic exposure (AUC)
TREATMENT FOR MODERATE TO
SEVERE THALASSEMIA
Frequent blood transfusions - More-severe forms of thalassemia often
require frequent blood transfusions, possibly every few weeks. Over
time, blood transfusions cause a buildup of iron in your blood, which can
damage your heart, liver and other organs. To help your body get rid of
the extra iron, you may need to take medications that rid your body of
extra iron.
TREATMENT FOR MODERATE TO
SEVERE THALASSEMIA
Stem cell transplant. Also called a bone marrow transplant, a stem cell
transplant may be used to treat severe thalassemia in select cases.
Prior to a stem cell transplant, you receive very high doses of drugs or
radiation to destroy your diseased bone marrow. Then you receive
infusions of stem cells from a compatible donor. However, because
these procedures have serious risks, including death, they're generally
reserved for people with the most severe disease who have a well-
matched donor available usually a sibling.
SELF-MANAGEMENT

Lifestyle and home remedies-

Avoid excess iron.

Eat a healthy diet. Eating a balanced diet that contains

plenty of nutritious foods can help you feel better and boost
your energy.

Avoid infections. Protect yourself from infections with

frequent hand-washing and by avoiding sick people.
COPING WITH THALASEMIA

Coping with thalassemia can be challenging. But you don't

have to do it alone. If you have questions or would like
guidance, talk with a member of your health care team. You
may also benefit from joining a support group. Such a group
can provide both sympathetic listening and useful
information. To find out about support groups in your area
that deal with thalassemia, ask a member of health care
team.
PREVENTION

In most cases, you can't prevent thalassemia. If you have

thalassemia, or if you carry a thalassemia gene, consider
talking with a genetic counselor for guidance if you're
thinking of having children.
NURSING MANAGEMENT

Nursing diagnosis
Anxiety and fear related to diagnostic procedure and blood
transfusion .
Management of therapeutic regimen individual effectively
Risk of infection due to anemia
Knowledge deficit related to disease and chelation therapy .
THEORY/MODEL APPLICATION
DOROTHEA ELIZABETH OREM:- Self care nursing theory.
Dorothea Elizabeth Orem is one of the foremost nursing theorist.
She was born on July 15 1914 in Baltimore, Maryland.
In early 1930s she earned her nursing diploma from the providence
hospital school of nursing in Washington DC.
She went on complete her bachelor of science in nursing in 1939 and
her masters in 1945 both from catholic university of America in
Washington DC.
She was given honorary doctorate of science from both Georgetown
university in 1976 and Incarnate world college in 1980.
FRAMEWORK

Accomplishes patients
patients therapeutic action
self care. limited.

Compensate for
Nursing action patients inability to
engage in self care.

Support and protects

patients.
RELATED RESEARCH
Dr. Mausumi Basu( 2015) a study on knowledge, attitude and practice
about thalassemia among general population in outpatient department at a
tertiary care hospital of Kolkata
Background & Objectives: BETA thalassemia is the most
common single gene disorder in India. A WHO update on b-thalassemia in
India indicated a carrier frequency of 34%, which gave the current national
population between 35.6 and 47.5 million carriers of the disorder nationwide.
Results: About 57.94% of the study population had adequate
knowledge; 83.88% had positive attitude and only 14.02% had good practice
about thalassemia. The significant contributing factors of thalassemia
knowledge and attitude were age (middle age),gender (male), residence
(urban), marital status (married),education level (bachelor degree),
occupation (students & service holders), and Per Capita Monthly Income
(high SE scale).
RELATED RESEARCH
A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-
Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in
Maternal Blood. (2017)
Aims: Thalassemia is a dangerous hematolytic genetic disease. In south
China, 24% Chinese carry alpha-thalassemia or beta-thalassemia gene
mutations. Given the fact that the invasive sampling procedures can
only be performed by professionals in experienced centers, it may
increase the risk of miscarriage or infection. Thus, most people are
worried about the invasive operation. As such, a noninvasive and
accurate prenatal diagnosis is needed for appropriate genetic counseling
for families with high risks.
Results: The fetal genotypes were successfully deduced in both families
noninvasively. The noninvasively constructed haplotypes of both fetuses
were identical to the invasive prenatal diagnosis results with an
accuracy rate of 100% in the target region.
SUMMARY

Today we discussed an important topic Thalassemia. In this

we cover Meaning, definition, Incidence, risk factors, types
of thalassemia, pathophysiology of thalassemia, clinical
manifestation, diagnostic measures, Management, theory
application and research related to thalassemia.
CONCLUSION
Thalassemia is an inherited blood disorder in which the body makes an
abnormal form of hemoglobin. Hemoglobin is the protein molecule in red
blood cells that carries oxygen.
The disorder results in excessive destruction of red blood cells, which
leads to anemia. Anemia is a condition in which your body doesnt have
enough normal, healthy red blood cells.
 References
Books-
Black M.Joyce and Hawks Hokanson Jane. (2012). Medical Surgical Nursing,Clinical
Management for Positive Outcome.Mumbai.Elsevier Publication.
Black. M. Joyce et.al. (2005). Medical Surgical Nursing.8th edition .Vol.2
Hinkle L. Janice and Cheever H. Kerry (2014).Text book of Medical-Surgical
Nursing 13th edition. NewDelhi.Wolters Kluwer publication
Holmes Nancy H. et al. (1998).Mastering Medical Surgical Nursing,Disorder and
Treatments,Nursing tips and guideline,Patient Teaching and Outcomes.United
States of America:Springhouse Corporation.
Ignatavicius D Donna et al. (1995).Medical Surgical Nursing, A Nursing Process
Approch. Philedelphia:W.B. Saunders Company
 Internet-
GBD (2015) Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "Global,
regional, and national incidence, prevalence, and years lived with disability for 310 diseases and injuries,
1990-2015: a systematic analysis for the Global Burden of Disease Study 2015. Lancet. .
GBD 2015 Mortality and Causes of Death, Collaborators. (8 October 2016). "Global, regional, and
national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death,
1980-2015: a systematic analysis for the Global Burden of Disease Study 2015.". Lancet.
"How Can Thalassemias Be Prevented?". NHLBI. July 3, 2012. Retrieved 25 June 2017.
A Study on Knowledge, Attitude and Practice about Thalassemia
https://www.researchgate.net/publication/282657666_A_Study_on_Knowledge_Attitude_and_Practice_abo
ut_Thalassemia_among_General_Population_in_Out_Patient_Department_at_a_Tertiary_Care_Hospital_of_Kol
kata [accessed Jun 28, 2017].
A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture
Sequencing of Cell-Free Fetal DNA in Maternal Blood from:
https://www.researchgate.net/publication/317148622_A_Pilot_Study_of_Noninvasive_Prenatal_Diagnosis_
of_Alpha-_and_Beta Thalassemia_with_Target_ Capture_Sequencing_of_Cell
Free_Fetal_DNA_in_Maternal_Blood [accessed Jun 28, 2017].
THANK YOU!