HEMA312 LABORATORY

THROMBOCYTOPENIA AND
ABSENT RADIUS (TAR)
SYNDROME
Antonio, Shiela Asuncion, Fae Louisse Marcos, Ferdinand
GROUP MEMBERS
Araro, Claire Guiller, Nicole Cyril
 TAR SYNDROME

PATIENTS' HISTORY
TWO TWIN SISTERS, FIVE MONTHS OLD

Patients are two twin sisters taken in evidence in the Genetics

Department from the age of five months. They were the children of
healthy, young, non-consanguineous parents. Family history was
remarkable, they had a sibling who suffered from a congenital
cardiac malformation, phocomelia, mental retardation and died at
two months. The two girls were born prematurely, weighting
approximatively 2250gr. each, with an Apgar score of 6/7. Physical
exam revealed malformative syndrome concerning the upper limbs
that presented forearm shortening in both girls.
 TAR SYNDROME

PATHOPHYSIOLOGY
TAR Syndrome is congenital disease produced by a genetic mutation
characterized by low platelet count and radial aplasia.
 TAR SYNDROME

PATHOPHYSIOLOGY
• A rare condition known as thrombocytopenia-absent radius
(TAR) syndrome is congenitally present from birth. The
long, thin forearm bones, or radii, are absent (aplasia) and
have low platelet counts in the blood (thrombocytopenia).
Additional skeletal defects, such as the absence or
underdevelopment of the other forearm bone (ulna),
structural heart abnormalities (congenital heart defects),
and renal abnormalities are also frequently present. Those
who are affected might have small stature and show signs
of intolerance to cow's milk
 TAR SYNDROME

PATHOPHYSIOLOGY
• The RBM8A gene deletion and/or mutations that
cause TAR syndrome are passed down as an
autosomal recessive genetic condition. It is
distinguished by bilateral absence of the radii,
the existence of both thumbs, and transitory
thrombocytopenia. Cow's milk allergy and
malformations of the heart, genitourinary
system, lower limbs, ribs, and vertebrae are
possible additional symptoms.
 TAR SYNDROME

SIGNS AND SYMPTOMS

• The thrombocytopenia often appears first in infancy
but becomes less severe or returns to normal over
time. Infants and young children are particularly
vulnerable to episodes of severe bleeding which may
occur in the brain and other organs. Other signs and
symptoms vary but may include heart defects, kidney
defects, and other skeletal abnormalities. About half
of people with TAR syndrome also have difficulty
digesting cow's milk
 TAR SYNDROME

LABORATORY FINDINGS
• Anaemia, regenerative type ( RBC=3.200.000/mm3, Hb=7,2g/dl
in one of the girls and RBC=3.800.000/mm3, Hb=9g/dl,
reticulocytes= 32.000/mm3)
• Thrombocytopenia (PLT=65.000/mm3 respectively
PLT=90.000/mm3)
• Hyperplastic bone marrow on the erythrocytes and
granulocytes series, hypoplasia of megakaryocyte series with
athrombocytogenic megakaryocytes
• Radiological findings:  Absent bilateral radius, curved cubitus,
humerus hypoplasia
TAR SYNDROME

POSITIVE DIFFERENTIAL
DIAGNOSIS DIAGNOSIS
The most likely differential is that of Fanconi
Based on the association of the fallowing, a diagnosis of
Syndrome.
TAR syndrome was made.
• Findings consistent with this diagnosis are:
o radius absence and thrombocytopenia
• Absent radius bilaterally in both girls
• Findings against the diagnosis:
• Craniofacial dimorphism
o absence of aplastic anemia a major
• Thrombocytopenia
• criteria of diagnosis in Fanconi
Positive family history with previous birth of a
Syndrome
sibling with malformative syndrome suggesting a
genetic disease with hereditary inheritance
 TAR SYNDROME

TREATMENT
Platelet Transfusion Surgical interventions for limb
anomalies

Hematopoietic stem cell Supportive care

transplantation (HSCT)
CONCLUSION
TAR syndrome is a rare hereditary disease and congenitally present from birth. The main
findings of this are thrombocytopenia and bilateral absence of the radius, It is inherited as an
autosomal recessive genetic disorder and caused by deletion and/or mutations in the RBM8A
gene.

There is no specific treatment for TAR syndrome but there some possible treatments like,
Hematopoietic stem cell transplantation (HSCT)that is a potential cure for TAR because it
replaces the defective bone marrow with healthy stem cells from a donor. Also, Platelet
transfusions that is used as first-line therapy for severe or symptomatic disease and can be
used to increase platelet count and stop bleeding at the same time while also preventing
bleeding.
HEMA312 LABORATORY

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TAR SYNDROME MEDTECH 3-YB-3