Sickle Cell Hemoglobinopathies Research Articles

Spectrum of Hemoglobinopathies: A New Revelation in a Tertiary Care Hospital of Odisha.

The prevalence of different types of hemoglobinopathies and its spectrum in Odisha state is believed to be high, but its exact prevalence is not known due to lack of large population based study. The present study was undertaken to know the magnitude and spectrum of hemoglobinopathies among the patients attending tertiary care centre for evaluation of anemia. All the patients of various age group without any history of blood transfusion preceding 3months of period attending the Clinical Hematology Department of SCB Medical College, Cuttack for evaluation of anemia were included in this 10year prospective study. Detail history, clinical examination followed by blood sample examination including by HPLC/CzE were done in all cases. Other investigations were done as per need of evaluation of anemia. Out of 21,371 patients with anemia, hemoglobinopathies was detected in 10,745 (50.2%) cases. The profile of hemoglobinopathy was as follows: HbS gene in 52.48% cases, betathalassemia in 54.06% and HbE hemoglobinopathies in 9.19% cases. Hemoglobinopathy was detected in very high percentage (50.2%) of cases in our centre. Various types of β-thalassemia and sickle cell hemoglobinopathies were two major types (54.06% and 52.48% respectively). This needs to be confirmed by large population based study.

Differentiating Fat Embolism Syndrome Due to Bone Marrow Necrosis in Patients with Sickle Hemoglobinopathies from Thrombotic Thrombocytopenic Purpura (TTP)

BACKGROUNDFat Embolism Syndrome (FES) is common in trauma patients and those with long bone fractures. It can also be a rare complication of bone marrow necrosis (BMN) in patients with sickle cell hemoglobinopathies (SC), particularly HbSβ+ and HbSC, due to marrow ischemia resulting from sickling with subsequent hematopoietic and stromal cell death. Release of intramedullary fat emboli causes multiorgan failure with anemia and thrombocytopenia, often mimicking TTP. Here, we discuss the clinical presentation and outcomes of 16 patients with SC and FES, and attempt to distinguish it from TTP. METHODSWe compared SC patients with FES treated at our institution between April, 2010 and January, 2018 with 2 TTP patients matched for age, gender and race. We analyzed their presenting symptoms and labs aiming at identifying characteristics that differentiate the two conditions. A univariate exact conditional logistic regression was used to examine significant differences in likelihood of FES for continuous and categorical variables. A Friedman test was used to test for significant differences in schistocytes on admission. Ordinal values were created based off the value of the dependent variable, i.e., presence of schistocytes (none=0, rare=1, few=2, occasional=3, moderate=4, and many=5/high power field). This test accounts for the 1:2 matching and the null hypothesis is that there is no difference in ranks by patient group. The study was approved by our Institutional Review Board. RESULTSSixteen patients with SC (10 with HbSβ+, 4 with HbSC and 2 with HbSS disease) were treated for FES at our institution, mean age 40.6y. At presentation, 11 (69%) complained of severe back pain, 11 (69%) had respiratory compromise, and 9 (56%) had altered mental status. On admission, all patients were anemic, with a mean hemoglobin of 9.2 g/dL. Thrombocytopenia was present in 12 patients (75%) at admission, and the rest developed it during the hospitalization. Six (38%) patients had a leukoerythroblastic picture on admission with >20 nucleated RBC/ 100 leukocytes, and another 7 (total, 81%) developed it later. Of the 10 patients who had ferritin measured, all had an increased level (mean 5792 ng/mL; ref: 10-291 ng/mL). Of the 12 patients who received RBC transfusion (10 exchange and 2 simple transfusion), 9 had full recovery, 2 had neurologic impairment and 1 died. Those with delayed recognition of FES either died (n=3) or suffered permanent neurologic damage (n=1).Table 1 compares the clinical characteristics of the SC patients who developed FES with matched TTP patients. The latter had significantly lower platelet count on admission and at nadir during their hospital-stay compared to FES patients (p<0.0001) (Fig 1). Also, back pain was reported significantly more in patients with FES (p<0.0001). Indices on admission that were not significantly different between the two groups included hemoglobin, lactate dehydrogenase, creatinine, or a leukoerythroblastic pattern on peripheral smear. FES patients were less likely to have moderate/many schistocytes on peripheral smear compared to TTP patients (p=0.035) (Fig 2). DISCUSSIONBMN and embolization of fat and necrotic marrow is a rare but potentially fatal complication in SC patients. It can be the first manifestation of SC disease in previously undiagnosed patients, leading to delayed diagnosis. In several published fatal cases of BMN, the diagnosis was only made at autopsy. The etiology and precipitating factors of BMN/FES remain poorly understood, though association with Parvovirus infection has been reported. In the past 8 years, we have diagnosed 16 patients with FES, who presented with an array of nonspecific symptoms such as fatigue, mental status changes, bone pain, fever, anemia, thrombocytopenia, and leukoerythroblastic picture in the peripheral blood. Since FES and TTP have similar clinical and laboratory features, identifying early signs that differentiate the two is essential for optimal treatment and survival. While both disorders have mortality approaching 90% if untreated, therapeutic plasma exchange is life-saving in TTP, and patients with FES appear to benefit from red cell exchange. Increasing awareness of hematologists, maintaining a high index of suspicion for FES, establishing the correct diagnosis early, and instituting rapid intervention with red cell exchange or simple transfusion is essential to prevent permanent dysfunction or death. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

A study on the genotype frequency of $$-158~\hbox {G}\gamma $$ - 158 G γ ( $$\hbox {C}{\rightarrow }\hbox {T}$$ C → T ) Xmn1 polymorphism in a sickle cell trait cohort from Siwa Oasis, Egypt

Sickle cell haemoglobinopathy is a genetic disorder caused by the presence of haemoglobin S (HbS) including sickle cell disease (SCD) (sickle cell anemia, HbS/β -thalassaemia and HbSC disease) and sickle cell trait. In Siwa Oasis, most remote oasis town in Egypt, the prevalence rate of sickle cell haemoglobinopathy is approaching 20%. The Xmn1 polymorphism was reported to increase the HbF level ameliorating the severity of the SCD. The present study aims mainly to investigate the genotype frequency of -158Gγ (C→T) Xmn1 polymorphism in Siwa Oasis, Egypt and to study, if possible, any association with increased HbF expression. This study was performed on 62 sickle cell carriers (AS), three cases of sickle cell anaemia (SS) detected during a screening programme conducted on primary school children in Siwa Oasis by Alexandria Faculty of Medicine in 2011-2012. Sixty-five age-matched and sex-matched healthy controls (AA) were included. All enrolled children were subjected to PCR-RFLP for the detection of -158Gγ (C→T) Xmn1 polymorphism using the Xmn1 restriction enzyme. Genotyping of the -158Gγ (CvT) Xmn1 polymorphism revealed that among AS, 85.5% were homozygous for the wild-type allele (CC) and 14.5% were heterozygous (CT). However, among SS, two cases were homozygous for the wild-type allele (CC) and one case was heterozygous (CT). The genotype frequencies among AA were 83.1% homozygous for the wild-type allele (CC) and 16.9% heterozygous (CT). None of the studied cases or controls was homozygous for the mutant allele (TT). Among both AS and AA, there was no significant difference between the wild-type and heterozygous genotypes regarding HbF level. Studying genotype frequency of the Xmn1 γG globin polymorphism (-158C>T ) in Siwa Oasis, Egypt can be considered as a starting point for further research targeting this community sector. However, in our studied cohort, there were only three sickle cell anaemia patients. Further, none of the tested cases or controls was found to be homozygous for the mutant allele (TT). In the absence of any homozygous genotype for the mutant allele (TT) in the studied cohort, any reasonable conclusion on the effect of polymorphism on increase in HbF could not be established. Further studies with a larger sample size are needed for better understanding of the possible association.

A Model Linking Sickle Cell Hemoglobinopathies and SMARCB1 Loss in Renal Medullary Carcinoma.

Renal medullary carcinoma (RMC) is a highly aggressive malignancy that predominantly afflicts young adults and adolescents with sickle hemoglobinopathies. It is characterized by complete loss of expression of the chromatin remodeler and tumor suppressor SMARCB1 Despite therapy, the outcomes of patients with RMC remain very poor, highlighting the need to understand the etiology of this cancer, and develop new diagnostic, preventive, and therapeutic strategies. A key knowledge gap in RMC biology is why sickle hemoglobinopathies predispose to the development of this cancer. We propose a model wherein the extreme conditions of hypoxia and hypertonicity of the renal medulla, combined with regional ischemia induced by red blood cell sickling, activate DNA repair mechanisms to drive deletions and translocations in SMARCB1, which is localized in a fragile region of chromosome 22. This mechanism would explain the linkage between RMC and sickle hemoglobinopathies, as well as the age dependence and predilection of RMC toward the right kidney.Significance: This perspective proposes an integrated and testable model of renal medullary carcinoma pathogenesis. Insights provided by this model can additionally inform other malignancies arising from the renal medulla and/or associated with loss of the SMARCB1 tumor suppressor gene. Clin Cancer Res; 24(9); 2044-9. ©2018 AACR.

Transcranial Doppler Screening in 50 Patients With Sickle Cell Hemoglobinopathies in Iran.

As previous studies had discordant results with regard to the correlation of transcranial Doppler (TCD) screening and brain MRI, the aim of this study was to find the correlation between TCD values and silent ischemia in sickle cell disease (SCD) patients. In this cross-sectional study, 50 patients with proven diagnosis of sickle cell hemoglobinopathies based on their hemoglobin electrophoresis were included. Demographic data, their physical exam, information with regard to crises history, and their laboratory data were recorded. Brain MRI and TCD were requested for all patients. The mean age of the patients was 10.2±5.8 years. Only 3 patients (6%) showed evidence of ischemia on brain MRI. Normal and ischemic patients were not significantly different with respect to TCD values, sex, splenomegaly, aplastic crisis, and laboratory test results (P-value >0.05). Only platelet count was significantly higher in the ischemic group compared with that in the normal group (P=0.002). The pain crisis was significantly associated with the mean velocity values of RMCA, LMCA, RV, and LV arteries (P-value <0.05). On the basis of our results, there was no significant difference in the mean velocity TCD values between patients with and without evidence of ischemic brain damage in brain MRI. The frequency of silent ischemia was much lower than expected. Further studies with larger sample sizes are needed to elucidate the positive predictive value of abnormal TCD in the prediction of silent ischemia in patients with sickle hemoglobinopathy in certain ethnic groups.

Association of sickle cell haemoglobinopathies with dental and jaw bone abnormalities.

To estimate the association between sickle cell anaemia and trait with dental and jaw bone abnormalities. Subjects (n=369) were allocated to three groups: sickle cell anaemia, trait and control. Dental shape, number, size and position and changes in pulp chamber, root and periapex were analysed by intra-oral periapical radiographs. Integrity of lamina dura, quality of cancellous bone and bone trabeculation were also evaluated. Prevalence ratios (PR) were calculated (α=0.05). Sickle cell anaemia had higher prevalence (PR:8.31) and number of teeth (PR:13.40) with external resorption; higher number of teeth with pulp calcification; partial and total loss of lamina dura; and higher prevalence of changes in trabecular structure of maxilla (PR:6.45) and mandible (PR:5.34). Sickle cell trait showed higher prevalence (PR:1.26) and higher number of teeth (PR:1.98) with partial loss of lamina dura; higher number of teeth with hypercementosis, changes in shape, size, periapex, total loss of lamina dura; and higher prevalence of changes in mandibular trabecular bone (PR:1.43). Pulp calcification and external resorption of the root were the most frequent dental alterations in sickle cell anaemia group, while in trait was higher frequency of changes in shape, size, periapex and root. Jaw bone changes were most prevalent in both homozygous and heterozygous subjects.

HbA2 and Fetal haemoglobin in the diagnosis of Thalassemia and Hemoglobinopathies

Background: Hemoglobin (Hb) disorders which include hemoglobinopathies and Thalassemia affect 7% of the world population. Capillary electrophoresis is useful for screening and follow up of Hb disorders . Aim: To evaluate HbA2 and HbF (fetalhemoglobin) in the diagnosis of Thalassemia and hemoglobinopathies. Material and Methods : 100 consecutive Capillary Hemoglobin electrophoresis done as a part of screening programme for Hb disorders from Jan2016 to june 2016 was included in the study. Children <1 yr of age and individuals with recent blood transfusion were excluded . Hb, RBC count and MCV were recorded. Results : Of the 100 Hb electrophoresis performed, 57 normal and 43 abnormal patterns were seen. Among the abnormal Hb patterns, β thalassemia trait (βTT) was the most common constituting 58.2% followed by Sickle cell (HbS) trait(11.7%), HbE trait(9.3%) and HbE/ β Thalassemia (7.0%). The HbA2 levels in normal, βTT, Sickle cell trait , HbE trait and HbE/ β thalassemia were 2.12%(SD 0.5), 4.9%(SD 0.62), 3.28%(SD 0.43), 3.98%(SD 0.67) respectively . The difference in HbA2 were significant (p value <0.0001).The difference in HbA2 levels between HbE trait and HbE disease was also significant (p value 0.036).Based on the HbF levels Sickle cell hemoglobinopathy was further classified. Conclusion: The difference in HbA2 levels in normal subjects, Thalassemia and hemoglobinopathies are statistically significant. The percentage of HbF in sickle cell gives information about coexisting hemoglobin disorder. In HbEhemoglobinopathy, HbA2 along with HbF identifies a specific group HbE/ β Thalassemia which often needs clinical intervention. DOI: 10.21276/APALM.1303

Imaging of renal medullary carcinoma in children and young adults: a report from the Children's Oncology Group.

Renal medullary carcinoma is a rare renal malignancy of childhood. There are no large series describing the imaging appearance of renal medullary carcinoma in children. To characterize the clinical and imaging features of pediatric renal medullary carcinoma at initial presentation. We retrospectively analyzed images of 25 pediatric patients with renal medullary carcinoma enrolled in the Children's Oncology Group renal tumors classification, biology and banking study (AREN03B2) from March 2006 to August 2016. Imaging findings of the primary mass, and patterns of locoregional and distant spread were evaluated in correlation with pathological and surgical findings. Median age at presentation was 13years (range: 6-21years), with a male predominance (3.2:1). The overall stage of disease at initial presentation was stage 1 in 1, stage 2 in 2 and stage 4 in 22. Maximum diameter of the primary renal mass ranged from 1.6 to 10.3cm (mean: 6.6cm) with a slight right side predilection (1.5:1). Enlarged (>1cm short axis) retroperitoneal lymph nodes were identified at initial staging in 20/25 (80%) cases, 10 of which were histologically confirmed while the others did not undergo surgical sampling. Enlarged lymph nodes were also identified in the mediastinum (14/25; 56%) and supraclavicular regions (4/25; 16%). Metastatic disease was present in the lungs in 19/25 (76%) and liver in 6/25 (24%). The pattern of lung metastases was pulmonary lymphangitic carcinomatosis: 10 cases (9 bilateral, 1 unilateral), pulmonary nodules with indistinct margins: 6 cases, pulmonary nodules with distinct margins: 2 cases, while 1 case had pulmonary nodules with both indistinct and distinct margins. Pulmonary lymphangitic carcinomatosis was pathologically confirmed in 4/10 cases. All cases with pulmonary lymphangitic carcinomatosis had associated enlarged mediastinal lymph nodes. Renal medullary carcinoma in children and young adults presents at an advanced local and distant stage in the majority of patients. The diagnosis of renal medullary carcinoma should be considered when a child or young adult presents with a poorly defined/infiltrative, centrally located renal mass, especially in the setting of known sickle cell hemoglobinopathy. Distant metastases are common at initial presentation in the lungs, distant lymph nodes and liver and often involve multiple sites simultaneously. Pulmonary lymphangitic carcinomatosis, a distinctive and uncommon form of lung metastasis in children, is common in this patient population.

Renal Medullary Carcinoma: Establishing Standards in Practice.

Although renal medullary carcinoma (RMC) is a rare subtype of kidney cancer, it is particularly devastating in that it is nearly uniformly lethal. No established guidelines exist for the diagnosis and management of RMC. In April 2016, a panel of experts developed clinical guidelines on the basis of a literature review and consensus statements. The goal was to propose recommendations for standardized diagnostic and management approaches and to establish an international clinical registry and biorepository for RMC. Published data are limited to case reports and small retrospective reviews. The RMC Working Group prepared recommendations to inform providers and patients faced with a low level of medical evidence. The diagnosis of RMC should be considered in all patients younger than 50 years with poorly differentiated carcinoma that arises from the renal medulla. These patients should be tested for sickle cell hemoglobinopathies, and if positive, SMARCB1/INI1 loss should be confirmed by immunohistochemistry. The majority of patients with RMC are diagnosed with metastatic disease. Upfront radical nephrectomy should be considered in patients with good performance status and low metastatic burden or after response to systemic therapy. Currently, cytotoxic, platinum-based chemotherapy provides the best, albeit brief, palliative clinical benefit. Vascular endothelial growth factor-directed therapies and mammalian target of rapamycin inhibitors are ineffective in RMC as monotherapy. Therapeutic trials of novel agents are now available for RMC, and every effort should be made to enroll patients in clinical studies.

Hemoglobin Patterns in Sickle Cell Hemoglobinopathies- A Large Prospective Study in North Maharashtra

Introduction: Sickle cell haemoglobinopathy is an inherited hemoglobinopathy resulting from a mutation occurring in betaglobin gene, on chromosome 11. The gene is prevalent in some tribes of North Maharashtra. The main aim of the study is to determine haemoglobin patterns in cases with sickle cell hemoglobinoathies in North Maharashtra using HPLC testing system. Material and Methods: This is a prospective study done over a period of 6 years. 10081 patients having positive solubility test or negative solubility test but having clinical suspicion of Sickle cell hemoglobinopathies were studied in detail and all samples were subjected for HPLC testing. Results: Prevalence of sickle cell hemoglobinopathy in this study was 70.36%. Most common pattern of haemoglobin observed was SA (89.72%). A slight female preponderance (54%) was noted. Predominant age group was paediatric (39.96%), followed by12-20yrs (33.97%). Oldest case for HbSS was 55yrs male. Predominant category affected was ST (82.05%). Conclusion: A very high prevalence of Sickle cell hemoglobinopathy was noted in this study. This is because the study was done in areas where Pawara and Bhill community resides who have a high frequency of HbS gene. Solubility test was found to be cost effective and easy screening test (Sensitivity being70.36%). HPLC found to be Rapid and accurate test for diagnosis of hemoglobinopathy and had helped in diagnosis of some rare heterozygous disorders like SA-HBQ India, SA-Hereditary persistence of foetal haemoglobin, HBD-SA. This is one of the largest and first of its kind prospective study which will help in prevention and cost effective management in targeted population.

Placental Pathology Findings Associated With Adverse Outcomes Among Women With Sickle Cell Hemoglobinopathies [8N

INTRODUCTION: The objective of this study is to investigate the relationship between placental pathology findings among women with sickle cell hemoglobinopathies (SCH) and adverse perinatal outcomes (APO). METHODS: This is a retrospective cohort study of non-anomalous, singleton infants born to mothers with laboratory confirmed SCH and placental pathology results. Medical charts were reviewed for maternal and neonatal outcomes as we sought to identify histologic findings associated with APOs. APOs included fetal death, small for gestational age neonates, umbilical cord pH &lt; 7.2, 5 minute Apgar &lt; 7, and neonatal death. RESULTS: One hundred thirty-five patients met inclusion criteria. Eighty-six percent had sickle cell trait, 12% had sickle cell disease, and 2% had hemoglobin SC disease. Twenty-seven pregnancies (20%) were complicated by APOs. There was no difference in presence of the following placental findings among the APO group as compared to the group without APOs: delayed villous maturation (p=0.59), perivillous fibrin deposition (p=0.58), placental infarction (p=0.62), chorioamnionitis (p=0.63), funisitis (p=0.24), villous congestion (p=0.39), and increased syncytial knots (p=0.10). When placental pathology findings among patients with sickle cell anemia were compared to patients with other types of SCH, there was a difference among groups with respect to increased syncytial knots (p &lt; 0.01). CONCLUSION: There was no difference in placental pathology findings among patients with SCH with and without APOs. Severity of maternal disease was associated with a higher rate of increased syncytial knots; which are associated with reduced uteroplacental perfusion and may be induced by exposure of the placenta to hypoxia or oxidative stress as seen in SCH.

Neonatal Abstinence Syndrome Among Infants Born to Mothers With Sickle Cell Hemoglobinopathies [3R

INTRODUCTION: The objective of this study is to examine risk factors for neonatal abstinence syndrome (NAS) among infants born to mothers with sickle cell hemoglobinopathies (SCH). METHODS: This is a retrospective case-control study of non-anomalous, singleton infants born to mothers with laboratory confirmed SCH and placental pathology results. Infants were included if they were diagnosed with NAS prior to hospital discharge. The outcome of interest was the association of maternal variables with NAS. RESULTS: The occurrence of NAS was 4% (n=5). Mothers with NAS were more likely to have SC disease (80%) compared to other SCH (20%). Mean weeks gestational age (wga) at delivery was 37 ± 2; and did not differ among NAS affected infants compared to infants without NAS (p=0.51). Likewise, the infant's hospital length of stay (LOS) did not differ between infants with NAS (11 ± 4 days) compared to unaffected infants (8 ± 18 days), p=0.3. A preterm birth rate of 21% associated with prolonged NICU admissions may contribute to similar neonatal LOS. Fifteen women had antepartum (AP) admissions for pain and/or sickle crisis. Of these patients, 4 infants (29%) were diagnosed with NAS. The median maternal AP LOS for women with infants diagnosed with NAS was 132 (61, 164) days compared to women who were admitted for pain but whose infants were not diagnosed infants with NAS: 7.5 (4, 12) days (p &lt; 0.001). CONCLUSION: Incidence of NAS among mothers with sickle cell hemoglobinopathies is low; severe disease requiring prolonged AP admission for pain control significantly increases the risk of NAS.

Imaging of Renal Medullary Carcinoma.

Renal medullary carcinoma (RMC) is a rare, highly aggressive tumor recognized as an independent pathological entity. African-descent adolescents and young adults with sickle cell hemoglobinopathy are the most affected groups. This rare subtype of renal cell carcinoma has its own morphogenetic and pathological characteristics. The major clinical manifestations include gross hematuria, abdominal or flank pain, and weight loss. The prognosis is very poor, with 95% of cases diagnosed at an advanced stage of the disease. In this review, we summarize the morphologic and dynamic characteristics of RMC under various imaging modalities such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis and management strategies are also discussed.

Pediatric Hypovitaminosis D: Molecular Perspectives and Clinical Implications.

Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto’s thyroiditis. Risk factors for hypovitaminosis D are people with darker skin pigmentation, use of sunscreen, insufficient ultraviolet B exposure, prematurity, living in northern latitudes, malnutrition, obesity, exclusive breastfeeding, low maternal vitamin D level, certain medications, drinking unfortified cow’s milk, liver failure, chronic renal insufficiency, cystic fibrosis, asthma, and sickle cell hemoglobinopathy. This review highlights and summarizes the molecular perspectives of vitamin D deficiency and its potential adverse health outcomes in pediatric age groups. The recommended treatment regimen is beyond the scope of this review.

Pregnancy and Its Outcome in Sickle Cell Hemoglobinopathies: A Study of Central India

Pregnancy and Its Outcome in Sickle Cell Hemoglobinopathies: A Study of Central India

Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease.

Sickle cell disease (SCD) is a complex disease that is characterized by the polymerization of deoxyhemoglobin S, altered red blood cell membrane biology, endothelial activation, hemolysis, a procoagulant state, acute and chronic inflammation, and vaso-occlusion. Among the physiological changes that occur during pregnancy, oxygen is consumed by fetal growth, and pregnant women with SCD are more frequently exposed to low oxygen levels. This might lead to red blood cells sickling, and, consequently, to vaso-occlusion. The mechanisms by which SCD affects placental physiology are largely unknown, and chronic inflammation might be involved in this process. This study aimed to evaluate the gene expression profile of inflammatory response mediators in the placentas of pregnant women with sickle cell cell anemia (HbSS) and hemoglobinopathy SC (HbSC). Our results show differences in a number of these genes. For the HbSS group, when compared to the control group, the following genes showed differential expression: IL1RAP (2.76-fold), BCL6 (4.49-fold), CXCL10 (-2.12-fold), CXCR1 (-3.66-fold), and C3 (-2.0-fold). On the other hand, the HbSC group presented differential expressions of the following genes, when compared to the control group: IL1RAP (4.33-fold), CXCL1 (3.05-fold), BCL6 (4.13-fold), CXCL10 (-3.32-fold), C3 (-2.0-fold), and TLR3 (2.38-fold). Taken together, these data strongly suggest a differential expression of several inflammatory genes in both SCD (HbSS and HbSC), indicating that the placenta might become an environment with hypoxia, and increased inflammation, which could lead to improper placental development.

Acute bone infarction: a rare complication in thalassemia.

Acute bone infarction is a well-described complication in sickle cell hemoglobinopathy but it is rarely reported in patients with thalassemia. This report describes an 18-year-old man with homozygous β-thalassemia presenting with a fever and severe acute bilateral ankle pain. The acute onset of severe pain and fever were clinical mimics of infectious arthritis and osteomyelitis. Magnetic resonance imaging revealed acute bone infarction in the meta-diaphysis of bilateral tibias presenting as central unenhanced devitalized bone with T1-high signal intensity fluid in the subperiosteum and soft tissue. Characteristic imaging features are discussed, emphasizing the benefit of fat suppression pre-and post-intravenous gadolinium T1-weighted images. The etiologies of bone infarction in thalassemia are reviewed.

The indications of ARCET in the management of patients with sickle cell haemoglobinopathy receiving oral, maxillofacial, head and neck surgery

The indications of ARCET in the management of patients with sickle cell haemoglobinopathy receiving oral, maxillofacial, head and neck surgery

Sclerosing Extramedullary Hematopoietic Tumor Mimicking Intra-abdominal Sarcoma.

Sclerosing extramedullary hematopoietic tumor (SEMHT) is a rare tumor that occurs in patients with chronic myeloproliferative disorders (CMPDs). The tumor is classified in the chronic idiopathic myelofibrosis (MF) subgroup, and cases have been reported at various localizations since 1980 [1-4]. Such tumors are usually seen in the abdominal organs, retroperitoneum, and mesenteric region [3]. The clinical, radiological, and morphological features may complicate differentiation from sarcoma, carcinoma, and lymphoma. It is sometimes also difficult to differentiate between a SEMHT and extramedullary hematopoiesis (EMH). These two lesions have similar clinical features, but EMH is morphologically more cellular. To aid in the differentiation, SEMHT has a more solid mass appearance with dense fibrosis and atypical megakaryocytes [3]. EMH is the presence of hematopoietic tissue in locations other than the bone marrow. The basic mechanism is bone marrow dysfunction and decreased production of hematopoietic cells, followed by production of bone marrow cells in other organs and tissues. EMH is seen in many disorders such as sickle cell anemia, hemoglobinopathies, thalassemia, hereditary spherocytosis, and MF [5]. EMH is most commonly observed in the liver and spleen and is rarely found in the peritoneum, lymph nodes, kidneys, thymus, central nervous system, retroperitoneum, myocardium, uterus, pleura, paraspinal region, or intestines [6-9].

English

OBJECTIVE: To study the outcome of pregnancy in women with sickle cell trait (SCT) and compared with normal hemoglobin. METHODS: This is a comparative study consisted of 75 pregnant women with SCT who were attending the antenatal clinic & admitted in obstetric ward were followed till 7 th day after delivery. The control group consisted of 150 age and gravidity matched pregnant women with normal hemoglobin recruited from same hospital. RESULTS: Statistically significant complications during pregnancy were preeclampsia; UTI, eclampsia and severe anemia were observed. Incidence of adverse fetal outcome in terms of stillbirth and intrauterine death were significantly higher in the study group than control group. CONCLUSION: At tertiary level hospital which is also a regional centre for sickle cell hemoglobinopathy, still SCT was a important contributor for adverse maternal and fetal outcome. Hence vigilant observation & care is needed for SCT women.