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Volume 8, Issue 2 (Suppl) J Blood Disord Transfus
ISSN: 2155-9864 JBDT, an open access journal Hematologists 2017
May 08-09, 2017
7th World Hematologists Congress
May 08-09, 2017 Barcelona, Spain
J Blood Disord Transfus 2017, 8:2(Suppl)
Hematological parameters of three freshwater stingray species (chondrichthyes: Potamotrygonidae) in the
middle Rio Negro, Amazonas state
Adriano Teixeira de Oliveira
Instituto Federal de Educação, Ciência e Tecnologia do Amazonas, Brazil
This paper aimed to study and compare the hematology of newborns, young, subadults, adult males, adult females and pregnant
females of Potamotrygon wallacei (cururu stingray), Potamotrygon motoro and Paratrygon aiereba . Newborn cururu stingrays
had lower red blood parameters than those of other development stages. Thrombograms and leukograms showed a conservative
pattern between development stage, sexual dimorphism and pregnancy. In P. motoro and P. aiereba, variables relating to red blood
parameters, biochemistry and leukograms showed little variation between the species’ biological characteristics, thus showing that
these variables are not good criteria for differentiating them within the same species. In conclusion, the development stage is an
important factor for differentiating hematological properties in the cururu stingray, while this has not been observed in P. motoro and
P. aiereba stingrays.
Novel molecular changes in Saudi patients with familial hemophagocytic lymphohistiocytosis
Ali Al Ahmari1, 2, Osama Alsmadi1, Atia Sheereen1, Lina Eibaik1, Tanziel Elamin1, Amal Jabr1, Bandar Al Saud1, Moheeb Al-Awwami1, Ibrahim Al-Fawaz1,
Mouhab Ayas1, Khawar Siddiqui1, Mohammad Viqaruddin1 and Abbas Hawwari2
1King Faisal Specialist Hospital and Research Centre, Saudi Arabia
2Alfaisal University, Saudi Arabia
Background: Familial hemophagocytic lymphohistiocytosis (FHL) in different ethnicities has been described in the literature, but
this is the first report from Saudi Arabia describing the novel mutations present in FHL genes.
Methods: 87 patients diagnosed with FHL from January 1995 to December 2014 at King Faisal Specialist Hospital and Research
Centre was screened for HLH-associated genes. Their clinical and biochemical profiles were retrospectively captured. DNA from
peripheral blood were used for mutation detection in various HLH genes- PRF1, UNC13D, STX11, STXBP2, LYST, rab27A, SH2D1A
and XIAP by PCR-sequencing method. We report herein those with novel molecular changes.
Results: Biallelic mutations were identified in 66 patients (75.86%) in whom 18 (27.3%) patients were found to harbor 10 novel
mutations distributed among five HLH-associated genes. STXBP2 mutations were identified in the majority of patients (38%). All
mutations were found to be damaging and disease. 10 patients with UNC13D had four novel mutations, two of which resulted in
a stop codon. The most prevalent mutation is c.3048_3049insC (p.E1017RfsX8) was found in six patients. One patient had a novel
missense mutation (c.862 T>C, p.W288R) in STXBP2 gene. Another STX11 mutation (601_602ins C, p. Q140Pfs*46) was found in
one patient. Four novel mutations were found in seven patients in other genes (LYST and rab27A). The novel molecular changes and
their associated clinical characteristics were shown. Parent consanguinity and history of siblings with HLH were observed in 77% and
26% of patients, respectively. Furthermore, a tribal and geographical pattern was clearly found in patients harboring STX11, STXBP2
and Unc13D mutations. STXBP2 mutations are the most prevalent among Saudi FHL patients.
Conclusion: In more than a quarter of mutations in Saudi patients with FHL are novel. Furthermore, in quarter of our patients,
no molecular defects were identified. This indicates that there are still more mutations to be discovered and also the possibilities of
deep intronic mutations and other genetic aberrations cannot be definitely excluded. A high rate of consanguineous marriages and
endogamy is seen in Saudi Arabians’, and is present in large groups. A tribal and geographical pattern was clearly observed. Though the
treatment is standardized for HLH, the impact of ethnicity and race on the severity and outcome may warrant further investigation.