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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Prevalence of GSTT1, GSTM1 and NQO1 (609C>T) in Filipino children with ALL (acute lymphoblastic leukaemia).

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Thalassemia in the Philippines.

Ernesto d'J Yuson1, Maria Liza T Naranjo1

  • 1Hematology Center, National Children's Hospital, Quezon City, Philippines.

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|August 11, 2022
PubMed
Summary
This summary is machine-generated.

Thalassemia is prevalent in the Philippines, highlighting the need for national screening. Current healthcare challenges include blood supply and managing iron overload for patients with thalassemia.

Keywords:
Balikatang Thalassemia (Ba-Tha)Philippine patient communitythalassemia carethalassemia screening

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Area of Science:

  • Medical Genetics
  • Hematology
  • Public Health

Background:

  • The Philippines exhibits significant ethnic and cultural diversity, alongside a notable prevalence of hereditary blood disorders like hemoglobinopathies.
  • Thalassemia, a specific hemoglobinopathy, is present in the country, with cluster data indicating its prevalence.

Purpose of the Study:

  • To underscore the need for a comprehensive national screening program for thalassemia in the Philippines.
  • To identify challenges in managing thalassemia care, including blood supply and iron overload treatment.

Main Methods:

  • Analysis of available cluster data on thalassemia prevalence.
  • Review of existing healthcare policies and their impact on thalassemia patient care.
  • Assessment of challenges in monitoring and managing iron overload.

Main Results:

  • Existing data suggests a significant prevalence of thalassemia in the Philippines.
  • The National Blood Services Act of 1994, while promoting blood donation, does not adequately meet the transfusion needs of the thalassemic population.
  • High costs of treatment, laboratory tests, and limited insurance coverage pose substantial barriers to effective iron overload management for Filipino patients.

Conclusions:

  • Continuous engagement with the thalassemia patient community is crucial for improving care.
  • Multi-sectoral efforts are essential to ensure sustained improvements in healthcare delivery for thalassemia patients in the Philippines.