Patient J,N - Physically, the patient’s nutritional status and

20 years old body built/statue is inappropriate to her age (

Female She’s 20 yo with a body built of an 14 yo )
- The patient looks weak/tired, has coordinated
Single body movements, can move, flex and extend her
06/01/1999 extrimities, doesn’t use any assistive device and
No formal education can voluntarily move.

Complaints : Night PTA on set of epigastric pain, T

Vomiting containing ingested food P
(-) Diarrhea (+) Headache R
BP
Diagnosis : Severe Anemia s/t Thalassemia O2

Lab results:
Creatini  Tachycardia
L 24.30 umol/ L 46 - 92
ne  Slightly pallor skin, palpebral conjunctiva
Na L 136.00 umol/L 137 – 145 and palmar creases
RBC L 3.3 10^12 L 4.0 – 5.5  Pale nail beds and Blue lips (cyanosis)
Hgb LO 41 g/L 120 – 160
LO 0.17 volume 0.36 –
Hct
% 0.46
MCV L 50.5 fL 78 – 102
32.0 –
MCHC L 24.6 g/dl
35.0
28.0 –
MCH L 12.4 pg
33.0
RDW H 26.0% 11 – 14
WBC H 12.2 10^9/L 5.0 – 10.0
Neutrop
H 82% 40 – 70
hils
Lympho
L 15% 20 – 45
cyte
Platelet H 831 10^3uL 150 - 350

Test results :

1. Echocardiography
- Dilated left atrium size (LAVI) of 36 m3/m2
- Anterior mitral valve leaflet appears thickened
and redundant, suggestive of Mitral valve
prolapse.

Patient’s Medication :
1) MV + FeSO4 1 tab BID
2) Furosemide 40 mg IVT
3) Tramadol 40 mg ( for Abd. Pain & Blood
transfusion precaution
GENERAL APPEARANCE
- The patient is conscious, well-oriented of her
present condition and showed interest with the
interview by answering every question
instantaneously.
- Upon receiving the patient, the patient was pale-
looking and complains of pain in the Abdomen.
But at the moment, the patient is looking good
with no complaints of pain
- The patient has no obvious physical deformities
CASE PRESENTATION : THALASSEMIA
Thalassemia is a blood disorder passed down through
families (inherited) in which the body makes an
abnormal form or inadequate amount of hemoglobin.
Hemoglobin is the protein in red blood cells that carries
oxygen. The disorder results in large numbers of red
blood cells being destroyed, which leads to anemia.
Causes
Hemoglobin is made of two proteins:
 Alpha globin
 Beta globin
Thalassemia occurs when there is a defect in a gene
that helps control production of one of these proteins.
There are two main types of thalassemia:
 Alpha thalassemia occurs when a gene or genes
related to the alpha globin protein are missing or
changed (mutated).
 Beta thalassemia occurs when similar gene
defects affect production of the beta globin
protein.
Alpha thalassemias occur most often in people from
Southeast Asia, the Middle East, China, and in those of
African descent.
Beta thalassemias occur most often in people of
Mediterranean origin. To a lesser extent, Chinese, other
Asians, and African Americans can be affected.
There are many forms of thalassemia. Each type has
many different subtypes. Both alpha and beta
thalassemia include the following two forms:
 Thalassemia major
 Thalassemia minor
You must inherit the gene defect from both parents to
develop thalassemia major.
Thalassemia minor occurs if you receive the faulty gene
from only one parent. People with this form of the
disorder are carriers of the disease. Most of the time,
they do not have symptoms.
Beta thalassemia major is also called Cooley anemia.
Risk factors for thalassemia include:
 Asian, Chinese, Mediterranean, or African
American ethnicity
 Family history of the disorder
Assessment and Diagnostic Findings
Laboratory and imaging studies in thalassemia
include the following:
 CBC count and peripheral blood smear. The
CBC count and peripheral blood film
examination results are usually sufficient to
suspect the diagnosis.
 Iron studies. Serum iron level is elevated, with
saturation reaching as high as 80%; the serum
ferritin level, which is frequently used to monitor
the status of iron overload, is also elevated.
 Skeletal survey. Skeletal survey and other
imaging studies reveal classic changes of
the bones that are usually encountered in
patients who are not regularly transfused.
 ECG. ECG and echocardiography are performed
to monitor cardiac function.
 HLA typing. HLA typing is performed for
patients for whom bone marrow transplantation
is considered.
Medical Management
The objective of supportive therapy is to
maintain sufficient hemoglobin levels to prevent
tissue hypoxia.
 Splenectomy. Splenectomy is the principal
surgical procedure used for many patients with
thalassemia.
 Transfusions. Transfusions are the foundation
of medical management; recent studies have
evaluated the benefits of maintaining the child’s
hemoglobin level above 10g/dl, a goal that may
require transfusions as often as every 2-4
weeks.
 Bone marrow transplantation. Bone marrow
transplantation offers the possibility of a cure for
some children with thalassemia, either using
marrow from an unaffected sibling, or a
matched, unrelated donor.
 Diet. A normal diet is recommended, with
emphasis on the following supplements: folic
acid, small doses of ascorbic acid (vitamin C),
and alpha-tocopherol (vitamin E); iron should not
be given, and foods rich in iron should be
avoided.
Pharmacologic Management
Medications needed for the treatment of various types of
thalassemias are nonspecific and only supportive.
 Antipyretics. Administration before blood
transfusion prevents or decreases febrile
reactions.
 Antihistamines. Administration prior to blood
transfusion may decrease or prevent allergic
reactions.
 Chelating agents. These agents are used to
chelate excessive iron from the body in patients
with iron overload.
 Corticosteroids. Some patients may develop a
local reaction at the site of DFO
injection; hydrocortisone in the DFO solution
may help to reduce the reaction.
 Antibacterial combinations. Certain
antibacterial agents are known to be effective
against organisms that often cause infection in
patients with iron overload who also are
receiving DFO therapy.
 Vitamins. Several vitamins are required such as
vitamin C, folic acid, and alpha-tocopherol, as
either supplements or enhancers of the chelating
 agent; serum level of vitamin C is low in patients
with thalassemia major, likely due to increased
consumption in the face of iron overload.
 Vaccines. Splenectomized patients are
usually prone to developing infections with the
encapsulated organisms such as pneumococci,
Haemophilus influenzae, and meningococcal
organisms; for this reason, such patients now
are immunized against these organisms 1-2 wk
prior to the procedure to prevent infections.
 Antineoplastic agents. Some patients may
respond to hydroxyurea and subsequently
decrease or eliminate transfusion requirements.
 Growth hormone. Excessive chelation with
deferoxamine may cause growth retardation;
growth hormone may be effective in increasing
growth rate in all thalassemic patient particularly
the ones with growth hormone deficiency.

Nursing Management
Nursing care of a child with thalassemia should
also be supportive.

Nursing Assessment
Nursing assessment of a child with thalassemia
include:
 Thalassemia major. Assess for severe anemia,
splenomegaly or hepatomegaly with abdominal
enlargement, frequent
infections, bleeding tendencies e.g. epistaxis,
and anorexia.
 Thalassemia intermediate. Assess for anemia,
jaundice, and splenomegaly, hemosiderosis
caused by increased intestinal absorption of
iron.
 Thalassemia minor. Assess for mild anemia
usually with no signs or symptoms.