Diagnose Thalasemia

History
The history in patients with thalassemia widely varies, depending on the severity of
the condition and the age at the time of diagnosis.
In most patients with thalassemia traits, no unusual signs or symptoms are
encountered.
Some patients, especially those with somewhat more severe forms of the
disease, manifest some pallor and slight icteric discoloration of the sclerae with
splenomegaly, leading to slight enlargement of the abdomen. An affected child's
parents or caregivers may report these symptoms. However, some rare types of β
thalassemia trait are caused by a unique mutation, resulting in truncated or
elongated β chains, which combine abnormally with α chains, producing insoluble
dimers or tetramers. The outcome of such insoluble products is a severe hemolytic
process that needs to be managed like thalassemia intermedia or, in some cases,
thalassemia major.
The diagnosis is usually suspected in children with an unexplained
hypochromic and microcytic picture, especially those who belong to
one of the ethnic groups at risk. For this reason, physicians should
always inquire about the patient's ethnic background, family history of
hematologic disorders, and dietary history.
Thalassemia should be considered in any child with hypochromic
microcytic anemia that does not respond to iron supplementation.
In more severe forms, such as β thalassemia major, the symptoms vary
from extremely debilitating in patients who are not receiving
transfusions to mild and almost asymptomatic in those receiving
regular transfusion regimens and closely monitored chelation therapy.
• These stigmata are typically not observed; instead, patients look
healthy. Any complication they develop is usually due to adverse
effects of the treatment (transfusion or chelation).
• Bony abnormalities, such as frontal bossing, prominent facial bones,
and dental malocclusion, are usually striking.
• Severe pallor, slight to moderately severe jaundice, and marked
hepatosplenomegaly are almost always present.
Physical Examination
Patients with thalassemia minor rarely demonstrate any physical abnormalities.
Because the anemia is never severe and, in most instances, the Hb level is not less
than 9-10 g/dL, pallor and splenomegaly are rarely observed.
In patients with severe forms of thalassemia, the findings upon physical
examination widely vary, depending on how well the disease is controlled. Findings
include the following:
• Children who are not receiving transfusions have a physical appearance so
characteristic that an expert examiner can often make a spot diagnosis.
• In Cooley's original 4 patients, the stigmata of severe untreated β thalassemia
major included the following:Severe anemia, with an Hb level of 3-7g/dL
• Massive hepatosplenomegaly
• Severe growth retardation
• Bony deformities
Treatment
Surgical Care
Splenectomy is the principal surgical procedure used for many
patients with thalassemia. The spleen is known to contain a large amount of
the labile nontoxic iron (ie, storage function) derived from sequestration of
the released iron. The spleen also increases RBC destruction and iron
distribution (ie, scavenger function). These facts should always be considered
before the decision is made to proceed with splenectomy. In addition, with
recent reports of venous thromboembolic events (VTEs) after splenectomy,
one should carefully consider the benefits and the risks before splenectomy
is advocated. The spleen acts as a store for nontoxic iron, thereby protecting
the rest of the body from this iron. Early removal of the spleen may be
harmful (liver cirrhosis has occurred in such individuals).
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. Drinking coffee or tea has been shown to
help decrease absorption of iron in the gut.
• In an animal study, green tea as antioxidant was shown to inhibit or
delay the deposition of hepatic iron in thalassemic mice. This
prevented iron-induced free radical generation, which has been
implicated in liver damage and fibrosis.
Medication
Medications needed for the treatment of various types of thalassemias are
nonspecific and only supportive. A list of such medications is provided in this
article.
• Antipyretics, analgesics (Acetaminophen (Tylenol, Tempra, Panadol)
• Antihistamines (Diphenhydramine hydrochloride (Benadryl)
• Chelating agents (Deferoxamine mesylate (Desferal)
• Antibacterial combinations (Trimethoprim-sulfamethoxazole (TMP/SMX,
Bactrim, Septra)
• Vitamins (ascorbic acid,alpha tocopherol,folic acid)
•
Follow Up
Blood transfusions are usually given at scheduled outpatient visits.
Patients must be scheduled for regular laboratory studies to monitor
iron deposition status and hepatic, cardiac, and renal functions.
Patients receiving deferoxamine (DFO) require annual visits to assess
for visual and hearing disturbances. Echocardiography and ECG are
used to monitor cardiac function.