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NCT Number: NCT07807540

Hematological Profile in Children With Numerical Chromosomal Disorders

This cross-sectional study aims to evaluate the hematological profile and determine the frequency and pattern of hematological abnormalities in children with numerical chromosomal disorders attending the Pediatric Department of Assiut University Children's Hospital.

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Key information

Conditions

Down Syndrome Abnormalities, Multiple Cardiovascular Abnormalities Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disorders of Sex Development Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Gonadal Disorders Gonadal Dysgenesis Heart Defects, Congenital Heart Diseases Hypogonadism Intellectual Disability Klinefelter Syndrome Male Urogenital Diseases Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Sex Chromosome Disorders Sex Chromosome Disorders of Sex Development Trisomy 18 Trisomy 18 Syndrome Turner Syndrome Urogenital Abnormalities Urogenital Diseases

Age range

28 day–18 year

Sex eligibility

All sexes

Study type

Observational

About this study

Numerical chromosomal disorders such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome are associated with various hematological abnormalities. These may include anemia, macrocytosis, thrombocytopenia, leukocyte abnormalities, and increased risk of hematological malignancies, particularly in Down syndrome.

This cross-sectional study will include children aged 28 days to 18 years with confirmed numerical chromosomal disorders. Complete blood count and peripheral blood smear examination will be performed to evaluate the hematological profile and determine the frequency and pattern of abnormalities.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • - Age from 28 days to 18 years
  • Confirmed numerical chromosomal disorder (Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, or Patau syndrome) by karyotype
  • Written informed consent from parents or legal guardians

Exclusion criteria

  • - Age below 28 days
  • Patients receiving chemotherapy
  • Refusal of parents or legal guardians to participate

Treatment and study plan

Primary outcomes

  1. Frequency of hematological abnormalities

    Time frame: Baseline

    Proportion of children with numerical chromosomal disorders who have one or more hematological abnormalities (anemia, macrocytosis, thrombocytopenia, leukopenia, leukocytosis, or abnormal peripheral blood smear findings), expressed as percentage.

Secondary outcomes

  1. Pattern of hematological abnormalities

    Time frame: Baseline

    Distribution and pattern of specific hematological abnormalities (anemia, macrocytosis, thrombocytopenia, neutropenia, etc.) among the studied children.

  2. Hematological profile according to syndrome type

    Time frame: Baseline

    Comparison of hematological parameters (hemoglobin, MCV, platelet count, white blood cell count) among different numerical chromosomal disorders (Down syndrome, Turner syndrome, and others).

  3. Association with clinical features

    Time frame: Baseline

    Association between hematological abnormalities and clinical phenotypes (recurrent infections, bleeding manifestations, hepatosplenomegaly).

Study contacts

Contact information is provided by the study sponsor or research team.

Dalia a Sayed, Resident

CONTACT

[email protected]

+20 11 54130609

Sponsors and collaborators

Lead sponsor

Assiut University

Other

Registry information

Official study title

Evaluation of Hematological Profile in Children With Numerical Chromosomal Disorders

Important dates

Study start
2026
Primary completion
2027
Study completion
2028
First posted
Sep 8, 2026
Registry last updated
Sep 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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