II конгресс детских врачей
РУз с международным участием
«Актуальные вопросы практической
педиатрии»
210
CLINICAL AND LABORATORY PROFILE OF CHILDREN WITH
THALASSEMIA IN A NON-ENDEMIC REGION
I.V. Fisyun
Orel State University named after I.S. Turgenev, Medical Institute,
Orel, Russian Federation
Background
Iron deficiency anemia (IDA) is the most common form of anemia
encountered by pediatricians in outpatient practice [1,3]. Microcytosis of red
blood cells is a typical but not pathognomonic finding in IDA; differential
diagnosis of IDA with the second most common microcytic anemia
–
thalassemia
–
is difficult, especially for asymptomatic forms in heterozygous carriers [2,4,5].
In this regard, the study of clinical and laboratory criteria for the differential
diagnosis of these diseases is relevant.
Objective
To determine the clinical and laboratory profile of children with
thalassemia in a non-endemic region using the model of the Oryol region.
Materials and methods
In the database of the only specialized department of pediatric oncology and
hematology Kruglaya Scientific-clinical multidisciplinary center for medical care
for mothers and children in the Oryol region, for the period 2015-2022 a search
was conducted for newly identified cases of thalassemia in children. For a
retrospective analysis, medical records of patients with thalassemia witch
diagnosis was verified by hemoglobin electrophoresis were used. Complaints,
medical history, age, nationality, clinical and laboratory manifestations of the
disease were subject to registration. Due to the rarity of the pathology, only
descriptive statistics methods were used; quantitative values are presented in the
format Me (A; B), where Me is the median, A and B are the 1st and 3rd quartiles,
respectively.
Research results
Over 8 years in the Oryol region, thalassemia was diagnosed in 8 patients
(five boys and three girls) aged from 2 to 17 years with a median of 5.5 years
(quartile 1; 3 = 4.5; 8). All children were born from marriages where at least one
of the parents or second-degree relatives was a native of Azerbaijan (62.5%, n=5),
Tajikistan (25.0%, n=2) or Uzbekistan (12.5%, n=2) n=1), while only half of the
patients indicated anemia in relatives (50.0%, n=4).
Complaints characteristic of anemic syndrome (weakness, pallor) were
reported by only 1 patient/parent (12.5%); the remaining cases were detected by
chance during a routine blood count assessment. The age of onset was 1.2 months
(1.1; 3), clinical and laboratory manifestations included anemic syndrome
II конгресс детских врачей РУз с международным участием
«Актуальные вопросы практической
педиатрии»
211
(12.5%, n=1), splenomegaly on ultrasound (37.5%, n=3), decreased hemoglobin
(Hb) level, microcytosis and hypochromia of erythrocytes (100%, n=8).
Manifestations of jaundice, symptoms of hemolytic crises, deformation of skeletal
bones, and cholelithiasis were not recorded in any of the children. Mild anemia
was diagnosed in 87.5% of patients (n=7), moderate anemia
–
in 12.5% (n=1);
median Hb level was 105.0 g/l (102.8; 108.5), RBC 5.9 x 109/l (5.3; 6.2), MCV 57.5
fL (56.3; 58. 8), MCH 18.5 pg (17.0; 19.3). All children had normal serum ferritin
(SF) levels. Based on the results of hemoglobin electrophoresis, the diagnosis of
β
-thalassemia was established in 87.5% of patients (n=7), one patient was a
cocarrier of
α
- and
β
-thalassemia. Prior to initial referral to a hematologist, all
patients in the pediatric area had received iron medications without success.
Conclusion
Cases of thalassemia in a non-endemic region are sporadic and
asymptomatic; typical clinical and laboratory manifestations of hemolysis do not
occur practically; the disease occurs under the guise of mild IDA. Peculiarities of
the genealogical history, as well as normal or elevated levels of SF in children with
microcytic anemia are an indication for referring children to a hematologist.
Reference:
1.
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