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Hemoglobin disorders, which
include the Thalassemias and hemoglobinosis, are the commonest inherited
diseases. The consulting room with laboratory of Thalassemias and
pathological hemoglobins is unique in the country with its' activities
- medical treatment by hemotransfusions and monitoring of patients with
Thalassemia Major by laboratory, radioscopic and specific diagnostic
tests; diagnostics of hemoglobinopathies; maintaining a regularly-updated
register of Thalassemia carriers in the Bulgarian population, as well as a
research work, related to these problems. Established since 1970 and
approved as the most authoritative all over the country, this laboratory
keeps a very good collaborations with all medical centers, which are
concerned with patients, suspected for hemoglobinopathies.
Aims
and functions:
1.
Diagnostic work -
detection of different kinds of hemoglobinopathies. The steps after
finding out any abnormality are orientated on two directions - the first
is the specifying of the pathological hemoglobin and its' characteristics,
and the second is the determination of Thalassemia's type. The largest
number of patients comes from the hematological sectors of the medical
institutions in Sofia and in the country. All results are entered into the
card-index. A genealogical analyses is provided to the patients with
abnormalities.
2.
Medical treatment and monitoring -
since January 2000, twenty patients over 18 years with Thalassemia Major
are regularly treated, monitored and put down into a dispensary system
according to the international recommendations. The level of the serum
ferritin is estimated every three months and iron-chelation therapy with
Desferal is applied.
Expectations for the future development:
The hemoglobinopathies and especially the Thalassemias
are genetic diseases of significant social importance because of the
geographical position of Bulgaria and the increasing number of the
children with the homozygous form - the Cooley's anemia. This problem has
to be solved by restriction of the hemoglobinopathias dissemination. A
comprehensive strategy, combining the best possible patient care, with
prevention by community information, carrier screening and prenatal
diagnosis is in process of implementation.
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