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  1. Fulltext Splenic lymphoma with hypersplenism--a case report
    Ng SC, Kuperan P, Jayalakshmi P, Chua CT
    Singapore Med J, 1990 Feb;31(1):80-2.
    PMID: 2185555
    A 47-year old man had hypersplenism from massive splenomegaly, the cause of which was undetermined for 2 years. He was initially asymptomatic though there was mild pancytopenia. However, 18 months after presentation he manifested both clinical and haematological deterioration, almost succumbing to sepsis. Splenectomy finally provided a definite diagnosis of follicular lymphoma and also restored his blood counts to within normal range.
    Matched MeSH terms: Splenomegaly/complications*
  2. Hypoechoic liver in fetuses with trisomy 21
    Omar PM, Lim WT, Ting YH, Lao TT, Law KM, Cheung AHK, et al.
    J Matern Fetal Neonatal Med, 2019 Oct;32(19):3315-3317.
    PMID: 29631451 DOI: 10.1080/14767058.2018.1459556
    The association between hypoechoic hepatomegaly in the third trimester and transient abnormal myelopoiesis (TAM) was reported previously in six fetuses with trisomy 21 (T21). We report a series of three cases of T21 in which hypoechoic liver (HL) was found in the second trimester but without evidence of TAM on both hematological and histological examination. We postulate that the hypo-echogenicity may be due to liver congestion secondary to hemodynamic disturbances seen in T21 fetuses. All three cases had negative first trimester Down syndrome screening and one case was detected solely because of the isolated finding of HL. HL per se may be associated with T21 and more positive cases are required to support this association.
    Matched MeSH terms: Splenomegaly/complications
  3. Interaction of Hb South Florida (codon 1; GTG-->ATG) and HbE, with beta-thalassemia (IVS1-1; G-->A): expression of different clinical phenotypes
    Tan JA, Tan KL, Omar KZ, Chan LL, Wee YC, George E
    Eur J Pediatr, 2009 Sep;168(9):1049-54.
    PMID: 19034506 DOI: 10.1007/s00431-008-0877-9
    INTRODUCTION: Interactions of different hemoglobin variants with thalassemia alleles can result in various clinical phenotypes. HbE-beta-thalassemia generally manifests with severe anemia where individuals exhibit beta-thalassemia major with regular blood transfusions or beta-thalassemia intermedia with periodic blood transfusions. This study presents a unique Malay family with three beta-globin gene defects-HbE, Hb South Florida, and IVS1-1 (G-->A).

    MATERIALS AND METHODS: HbE activates a cryptic splice site that produces non-functional mRNAs. Hb South Florida is a rare beta-hemoglobin variant, and its interactions with other beta-thalassemia alleles have not been reported. IVS1-1 is a Mediterranean mutation that affects mRNA processing giving rise to beta(o)-thalassemia.

    RESULTS AND DISCUSSION: Fifteen mutations along the beta-globin gene complex were analyzed using the amplification refractory mutation system. Hb South Florida was identified by direct sequencing using genomic DNA.

    CONCLUSION: The affected child with HbE/IVS1-1 produced a beta-thalassemia major phenotype. Compound heterozygosity for Hb South Florida/IVS1-1 produced a beta-thalassemia carrier phenotype in the mother.

    Matched MeSH terms: Splenomegaly/complications
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