D64
Conditions
Interventions
Group 1: 1) Blood, bone marrow smears have previously been submitted for the reference diagnosis.
2) The blood and bone marrow smears were evaluated by microscope.
3) The clinical and laboratory at d
Sponsors
Universitätsklinikum Freiburg, Kinder- und Jugendmedizin, Klinik IV, Pädiatrische Hämatologie/Onkologie
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Individuals of any age with a confirmed diagnosis of Pearson syndrome are included. Pearson syndrome required the presence of anaemia at diagnosis and typical bone marrow finding with vacuolization of marrow precursors and/or ring sideroblasts. 2. Genetic confirmation of the diagnosis by detection of a large scale mtDNA deletion is necessary.
Exclusion criteria
Exclusion criteria: 1. Absence of a genetic report indicating a large scale mtDNA deletion 2. No informed consent from parents
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| • To analyze hematological values and bone marrow findings at diagnosis in patients with Pearson syndrome. • To demonstrate the natural history of patients | — |
Secondary
| Measure | Time frame |
|---|---|
| • To determine incidences and time-points of appearances of varied non-hematological complications • To analyze the incidence and the time-point of hematological recovery • To determine genetic and clinical predictors of the clinical course of Pearson Syndrome | — |
Countries
Germany
Contacts
Public ContactAyami Yoshimi-Nöllke
Kinder- und Jugendklinik, Klinik Pädiatrische Hämatologie und Onkologie
Outcome results
None listed