THEORETICAL ASPECTS IN THE FORMATION OF
PEDAGOGICAL SCIENCES
International scientific-online conference
70
COORDINATING THE PROPER COLLECTION AND PROCESSING OF
BLOOD SAMPLES IN THE DIAGNOSIS OF FABRY DISEASE IS AN
IMPORTANT FOUNDATION FOR THE SUCCESS OF NEONATAL
SCREENING
A.N.Aripov
O.A.Aripov
B.B.Mukhammadjonov
I.R.Oʻrinboev
Center for the Development of professional qualifications of Medical Workers,
Republican Specialized Pediatric Scientific and Practical Medical Center
https://doi.org/10.5281/zenodo.16721289
Introduction.
Neonatal screening, conducted for the purpose of early
detection of hereditary disorders and metabolic disorders, is important for the
healthy development of adolescents. Proper collection, processing, and
transportation of blood samples during screening directly affects the accuracy of
the results [1,2,3]. The most effective method is to apply blood from the child's
heel directly to the filter paper. This method is a priority for screening. The use
of tubes and capillaries containing EDTA or citrate preservatives is not
recommended unless blood is taken directly onto filter paper. It is generally
accepted that these methods can lead to errors in the results. This holds
particular significance in the management of illnesses linked to lysosome
buildup, specifically for the prompt and early detection of Fabry disease [4,5].
Materials and methods.
Blood-based dry urine tests should be performed
by highly qualified medical personnel, and the urine should be stored under
appropriate conditions and labeled in a laboratory. Information about the device
on which the na'muna will be collected – the last name, first name and
patronymic of the child, date and time of birth, gender must be indicated in full
and accurately. A number of laboratories are also requesting additional
information: about preterm or postpartum labor, the condition of the twins, diet,
whether antibiotics were taken, as well as the status of blood transfusion.
Results.
Increasing the volume of blood sampling from patients using
special methods and their timely implementation in practice leads not only to
improved diagnostics, but also to high effectiveness of therapeutic measures.
This is especially important in the practice of treating diseases associated with
the accumulation of lysosomes, in particular, for the timely diagnosis of Fabry
disease at an early stage. In this regard, clinical diagnostics in laboratory
practice, ensuring the correct performance of analyses, starting with the
THEORETICAL ASPECTS IN THE FORMATION OF
PEDAGOGICAL SCIENCES
International scientific-online conference
71
collection of necessary diagnostic information, requires close attention and high
qualifications from each medical representative.
Conclusion.
Thus, it can be concluded that reliable and accurate results of
neonatal screening are ensured by proper blood collection, documentation, and
compliance with local medical regulations. This, in turn, can lead to the fact that
with a serious approach to procedures, children will be guaranteed health in the
future. This is particularly crucial for the prompt diagnosis of Fabry disease at an
early stage and for the treatment of disorders linked to lysosome buildup.
References
1.Muhammadjonov, B. B., Aripov, A. N., Aripov, O. A., & Karimov, S. B. (2023).
Pediatriya amaliyotida fabri kasalligining etiologiyasi, muammolari va uning
dolzarbligi. в eurasian journal of medical and natural sciences (Т. 3, Выпуск 10,
сс. 35–43). Zenodo. https://doi.org/10.5281/zenodo.10007889
2. A. N. Aripov, O. A. Aripov, B. B. Mukhammadjonov, I. R. Urinboev, Sh. O.
Abdurakhimov. Description of Lysosome Accumulation Disorders, Priorities of
Family Screening in the Diagnosis of Fabry Disease. AMERICAN Journal of
Pediatric Medicine and Health Sciences Volume 2, Issue 12, 2024 ISSN (E):
2993-2149, p. 175-182.
3.Aripov, A. N., Aripov, O. A., Mukhammadzjonov, B. B., & Sha-Akhmedova, L. R.
(2024). Stages of development and modern approaches to the diagnosis of
fabry's disease. в eurasian journal of academic research (Т. 4, Выпуск 10, сс. 64–
73). Zenodo. https://doi.org/10.5281/zenodo.13925003
4. Aripov, A. N., Aripov, O. A., L.L. Akhunjanova, A.O’. Nabiev, Khamroev T.T.
Muhammadjonov, B. B. Karimov, S. B. Problems and relevance of early diagnosis
and treatment of severe hereditary and acquired diseases in children. Frontline
medical sciences and pharmaceutical journal. (ISSN – 2752-6712) Volume 02
ISSUE 07 Pages: 06-15
5. Aripov A.N., Aripov O.A., Muhammadjonov B.B., Achilov Q.H. Bolalarda kam
uchraydigan fabri kasalligini erta tashxislashning zamonaviy yondashuvlari.
Tibbiyotda kasalliklarni oldini olishning epidemiologik aspektlari va profilaktika
sohasining ahamiyati. Xalqaro ilmiy – amaliy anjuman. Termiz 14 – aprel 2025.
28-b.
