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  • Laboratory Records VARIANT II Beta Thal Short Program A2 Deventer 3 68

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    This laboratory record summarizes genetic testing results for a female patient born in 1955 who presented with normocytic normochromic anemia and iron depletion. Various tests were performed, including chromatography, CE, hematology, and genetic sequencing. Genetic sequencing identified the patient as a heterozygote for the c.202G>A p.Val68Met mutation in the beta-globin gene, which multiple in silico tools predicted would be pathogenic or disease-causing for beta-thalassemia. The case was provided by the Hb-lab at Leiden University Medical Center in the Netherlands.

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    This laboratory record summarizes genetic testing results for a female patient born in 1955 who presented with normocytic normochromic anemia and iron depletion. Various tests were performed, including chromatography, CE, hematology, and genetic sequencing. Genetic sequencing identified the patient as a heterozygote for the c.202G>A p.Val68Met mutation in the beta-globin gene, which multiple in silico tools predicted would be pathogenic or disease-causing for beta-thalassemia. The case was provided by the Hb-lab at Leiden University Medical Center in the Netherlands.

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    5 views3 pages

    Laboratory Records VARIANT II Beta Thal Short Program A2 Deventer 3 68

    Uploaded by

    bassam alharazi
    This laboratory record summarizes genetic testing results for a female patient born in 1955 who presented with normocytic normochromic anemia and iron depletion. Various tests were performed, including chromatography, CE, hematology, and genetic sequencing. Genetic sequencing identified the patient as a heterozygote for the c.202G>A p.Val68Met mutation in the beta-globin gene, which multiple in silico tools predicted would be pathogenic or disease-causing for beta-thalassemia. The case was provided by the Hb-lab at Leiden University Medical Center in the Netherlands.

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    © All Rights Reserved
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    of 3

    Laboratory Records

    ________________________________________________________

    Hb A2 -Deventer
    Variation data: (delta 67(E11) Val>Met)

    Case commentary:
    • Female, DoB: 1955

    Indication: Anemia/hemolysis e.c.i.

    Chromatography: VARIANTII Beta-thalassemia Short Program

    flagged low HbA2 1.5%

    Other methods:

    CE = HbA 98.8% ; HbA2 1.2%

    Hematology and Clinical Presentation:


    Normocytic normochromic anemia, iron depletion

    CBC data:
    RBC: 3.49

    Hb: 10.3

    Ht: 0.309

    MCV: 89

    MCH: 29.3

    MCHC: 20.6

    ZPP: 161

    Hapto: <24.3
    Other studies:

    Gap-PCR: Negative

    Delta-seq: heterozygote c.202G>A p.Val68Met (Cd67GTG>ATG)

    Alamut: Missense, heavily conserved nucleotide and moderately

    conserved amino acid small physicochemical difference between Val and Met

    no effect on splicing

    Align GVGD: Class C0

    SIFT: Deleterious

    PolyPhen: Predicted to be pathogenic

    Mutation Taster: Disease causing

    External links:

    Case provided by: Hb-lab, LDGA, Leiden University Medical Center, NL

    Comments by: Dr. C.L.Harteveld

    References:

    Disclaimer: The chromatogram and data in this case report are actual third party
    laboratory findings. Bio-Rad Laboratories, Inc. does not validate or confirm the sample
    data included in this database. All information contained herein is for informational use
    only and is not meant as a definitive identification of the hemoglobin genotype nor for
    diagnostic purposes. We welcome your comments at hemoglobins@bio-rad.com

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