Hematol. Rep., Volume 11, Issue 3 (September 2019) – 9 articles

HIV-exposed uninfected infants (HEU) represent a growing population in developing countries including Gabon. Several studies have shown the vulnerability of these infants toward infectious diseases. The aim of the study was to contribute to the global effort to understand how HIVexposure or anti retroviral therapy affects infants’ blood elements. We assessed HEU infants’ complete blood count using a blood analyzer instrument. Our investigations showed that among the observed clinically relevant hematological abnormalities events, thrombocytosis was the most prevalent clinically relevant hematological abnormality associated with HEU infants’. We showed that HEU infants had significantly higher platelets count than HUinfants. Therefore, higher level of platelets seems to characterize HEU infants when compared to HU infants. Full article

This original report describes the diagnosis and management of a male with hemophagocytic lymphohistiocytosis (HLH) triggered by influenza B virus infection. The patient was diagnosed with HLH-2004 clinical criteria and a bone marrow biopsy demonstrating hemophagocytes. Therapy consisted of etoposide and dexamethasone while monitoring hemoglobin and platelet levels. To enable early recognition and prompt treatment for this disease, physicians should be aware of this association. Full article

Anemia is one of the most common problems in chronic kidney disease (CKD). In several cases, despite comprehensive investigations, definite causes of anemia frequently remain unknown. We aimed to analyze the factors that possibly affect anemia in CKD patients who were referred for hematology consultation. A total of 87 patients were retrospectively included in the cohort. Forty-four cases were excluded, 30 cases with unavailable intact parathyroid hormone (iPTH) data, 11 cases with bone marrow diseases (8 Pure red cell aplasia, 3 Myelodysplastic syndrome) and 3 cases with thalassemia. Totally, 43 patients were analyzed. Patients with high iPTH had significantly lower Hemoglobin (Hb) level and required higher dose of erythropoietin stimulating agents (ESAs) compared with normal iPTH group (Hb 8.29 vs. 9.24 mg/dL, p = 0.032 and ESAs dose of 16,352.94 vs. 12,444.44 U/ week, p = 0.024). In univariate followed by stepwise multivariate analysis, serum phosphate (PO4) was significantly associated with lower Hb level (p = 0.01 and p = 0.013, respectively). Hb level was inversely correlated with iPTH and PO4 level (r = −0.54, p < 0.001 and r = −0.47, p = 0.05; respectively). Mineral disequilibrium is an important factor associated with anemia in ESA hyporesponsive CKD. Hyperphosphatemia and secondary hyperparathyroidism are significantly correlated with low Hb. Therefore, we strongly suggest correction of these mineral disequilibrium factors prior to performing bone marrow study. Full article

We propose using a modified amplification refractory mutation system real-time polymerase chain reaction (ARMS RTPCR) technique to exclude the invasive prenatal diagnosis for a non-paternally inherited beta thalassemia mutation in couples atrisk for having a baby with CHBT. The ARMS RT-PCR method was performed for 36 at-risk couples by using isolated fetal cell-free DNA from maternal plasma. The modified ARMS RT-PCR primers targeted one of the following paternally inherited beta thalassemia mutation: −28 A→G, CD17 A→T, CD 26 G→A, IVS1-1 G→T and CD 41–42 -CTTT. The method could be successfully employed for NIPST starting with the 7th week of gestation. The results showed that 19 pregnant women were negative for PIBTM (53%). After an on-track and on-time of one year, including postnatal thalassemia blood tests, none of the babies showed symptoms or signs of beta thalassemia disease. We concluded that the modified ARMS RT-PCR method was an accurate, cost-effective and feasible method for use as a NIPST for at-risk couples with the potential of having a baby with CHBT. Full article

A 63-year-old man was diagnosed with a rare variant of acute promyelocytic leukemia (APL) with t(4;17)(q12; q21) that showed atypical morphological features and two different clinical symptoms. He was started on standard induction chemotherapy for acute myeloid leukemia, which decreased myeloblast numbers; however, APL-like blasts remained. He then received a salvage therapy that added all-trans retinoic acid (ATRA). After ATRA commenced, APL-like blasts disappeared and cytogenetic analysis became normal. However, myeloblasts subsequently increased, and he became resistant. In summary, this patient exhibited two different clinical courses of acute myeloid leukemia and APL. Full article

The aim of this study is to explore the expression of osteopontin (OPN) and its relationship with prognostic factors and survival in diffuse large B cell lymphoma (DLBCL). A tissue microarray was performed for immunohistochemical evaluation. Contingency tables were analyzed for trends; chi-square test was used to determine differences between groups. Univariate and multivariate Cox proportional hazards-regression analyses were performed to evaluate the impact of prognostic factors on survival. Expression of OPN was observed in 28%. It was different in non-germinal center DLBCL (p = 0.04). The mean overall survival (OS) was lower in patients with positive OPN expression (19.762; CI 95% 14.269–25.255) it was not significant (p = 0.123). It is not possible to establish a clear relationship between the expression by immunohistochemistry of osteopontin and a poor prognosis but it would be important to complement the analysis with other techniques as PCR or NGS that allow us to assess the influence of the isoforms and post-translational modifications of OPN on the biological behavior of DLBCL. Our findings indicate that OPN expression could be associated with a more aggressive variant of lymphoma: non-germinal center DLBCL. Full article

This study was aimed to systematize magnetic resonance imaging (MRI) presentation of toxic leukoencephalopathy, to find the correlation between method of central nervous system (CNS) leukemia prevention and changes on MRI, to find relationship between existence leukoencephalopathy on imaging and neurocognitive deficits in pediatric patients after anti-leukemic therapy. Brain MRI data of 48 children, who underwent a therapy course according to the ALL-MB intermediate risk protocol, was evaluated. In accordance with two arms of this protocol, they received either radiation therapy, or additional intrathecal administration of chemotherapeutic agents as a prevention of CNS leukemia. Also, neurocognitive tests were performed. According to the results of the performed investigation, 10 (50%) out of 20 children, who received cranial irradiation and 18 (66.6%) out of 27 patients, who received only intrathecal therapy demonstrated abnormal brain changes (leukoencephalopathy) according to MRI data. Leukoencephalopathy was mostly presented by diffuse zones and localized predominantly in the frontal and temporal lobes. There was no correlation between method of CNS prevention and the existence of leukoencephalopathy on MRI. The analysis of our data did not show significant differences in brain damage and severity of cognitive impairment depending on the type of prevention of CNS leukemia. Moreover, in this study no statistical correlation was found between leukoencephalopathy on MRI and neurocognitive impairment according to clinical tests data. Further long-term prospective studies and examinations should be performed to assess late neurotoxic effects. Full article

Beta thalassemia is a hereditary disorder resulted from mutations in the β globin gene leading to alpha/beta imbalance, ineffective erythropoiesis, and chronic anemia. Three types have been defined, based on the degree of reduced beta-globin chain synthesis and clinical phenotype: major, intermedia and minor (heterozygote carrier state). Beta thalassemia intermedia is characterized by heterogeneity for the wide clinical spectrum of various genotypes and a wide range of presentations. The genotypes of beta thalassemia intermedia are much complicated referring to β⁺/β⁺,β⁺/β⁰, Hb E/β⁰, β⁰/β⁰ compounding alpha thalassemia and so on. In this present case, we reported a rare beta thalassemia intermedia genotype of double heterozygosity for poly A (A>G) and CD17(A>T) indicated of β⁺/β⁰ in a Chinese family. Full article

A 3-year-old male child was presented with worsening abdominal pain, abdominal distension, lethargy, pallor and hepatosplenomegaly. The patient had multiple outpatient visits in the past and was treated with oral antibiotics, oral anthelmintic agents, albeit with minimal benefit. The patient also had non-neutropenic pyrexia spikes and oral ulcers. The patient was an adopted child; hence details about his biological parents’ previous history were unclear. Differential diagnosis of Chronic Myelomonocytic Leukemia (CMML), Juvenile Myelomonocytic Leukemia (JMML), Gaucher’s disease, Thalassemia and discrete pancreatic pathology was considered. Hemoglobin electrophoresis was indicative of thalassemia. Also, molecular detection method by polymerase chain reaction confirms a concurrent infection with Plasmodium knowlesi malaria. The BCR-ABL fusion gene was found to be negative. Correlating with peripheral monocytosis, bone marrow aspiration and trephine biopsy with blasts only 3–4% and hepatosplenomegaly, a diagnosis of JMML was established. We present a rare phenomenon with an overlap of signs and symptoms between JMML, underlying thalassemia, and Plasmodium knowlesi, posing a diagnostic challenge to physicians. Full article