scholarly journals Successful Outcome of Chronic Intrahepatic Cholestasis in an Adult Patient with Sickle Cell/β+Thalassemia

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Efthymia Vlachaki ◽  
Panagiotis Andreadis ◽  
Nikolaos Neokleous ◽  
Aleka Agapidou ◽  
Evaggelia Vetsiou ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Adult Patient ◽  
Sickle Cell ◽  
Intrahepatic Cholestasis ◽  
Interesting Case ◽  
Successful Outcome ◽  
Variant Form ◽  
Cell Disease ◽  
Hb S ◽  
Chronic Intrahepatic Cholestasis

Sickle cell/β+thalassemia (Hb S/β+thal) is considered as a variant form of sickle cell disease. Acute episodes of vasoocclusive pain crisis are characteristic for sickle cell disorders and may be complicated by an acute or chronic life-threatening organ dysfunction. Chronic intrahepatic cholestasis is a rare and severe complication in sickle cell disease, characterized by marked hyperbilirubinemia and acute hepatic failure with an often fatal course. Despite the fact that patients with Hb S/β+thal usually have a mild type of disease, herein we describe an interesting case of chronic intrahepatic cholestasis with successful outcome in an adult patient with Hb S/β+thal.

scholarly journals Chronic intrahepatic cholestasis in sickle cell disease requiring exchange transfusion.

Gut ◽  
1995 ◽  
Vol 37 (1) ◽  
pp. 144-147 ◽  
Author(s):  
A O'Callaghan ◽  
S G O'Brien ◽  
M Ninkovic ◽  
G P Butcher ◽  
C S Foster ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Intrahepatic Cholestasis ◽  
Exchange Transfusion ◽  
Cell Disease ◽  
Chronic Intrahepatic Cholestasis

scholarly journals Sickle Cell Anemia Presenting with Vaso-Occlusive Pain: Should We Screen for COVID-19?

2021 ◽  
pp. 1-4
Author(s):  
Mohammad Ali ◽  
Lina Okar ◽  
Nabil E. Omar ◽  
Jabeed Parengal ◽  
Ashraf Soliman ◽  
...  
Keyword(s):  
High Risk ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Signs And Symptoms ◽  
Risk Groups ◽  
Position Statement ◽  
Interesting Case ◽  
International Federation ◽  
Cell Disease ◽  
The World

Despite the widespread of coronavirus disease-19 (CO­VID-19) infection around the world, there are very scarce reported literature about the care of patients with a known diagnosis of hemoglobin disorders such as sickle cell disease (SCD) or thalassemia and confirmed COVID-19 infection. Thalassemia International Federation issued a position statement to include patients with thalassemia and SCD among the high-risk groups of patients. Here, we present an interesting case of a 42-year-old patient know to have SCD presenting with Vaso-occlusive (VOC) pain episode in the absence of COVID-19 signs and symptoms, who tested positive for COVID-19 infection and had a smooth recovery. This case highlights the importance of screening SCD patients presenting with VOC-related events even in the absence of COVID-19 signs and symptoms.

scholarly journals Pregnancies and Neonatal Outcomes in Patients with Sickle Cell Disease (SCD): Still a (High-)Risk Constellation?

2021 ◽  
Vol 11 (9) ◽  
pp. 870
Author(s):  
Pia Proske ◽  
Laura Distelmaier ◽  
Carmen Aramayo-Singelmann ◽  
Nikolaos Koliastas ◽  
Antonella Iannaccone ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Neonatal Outcomes ◽  
University Hospital ◽  
High Rate ◽  
Successful Outcome ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Significant Difference ◽  
Tract Infections

Background: This monocentric study conducted at the University Hospital of Essen aims to describe maternal and fetal/neonatal outcomes in sickle cell disease (SCD) documented between 1996 to 2021 (N = 53), reflecting the largest monocentric analysis carried out in Germany. Methods/Results: 46 pregnancies in 22 patients were followed. None of the patients died. In total, 35% (11/31) of pregnancies were preterm. 15 pregnancies in eight patients were conceived on hydroxycarbamide (HC), of which nine had a successful outcome and three were terminated prematurely. There was no difference regarding the rate of spontaneous abortions in patients receiving HC compared to HC-naive patients prior to conception. In patients other than HbS/C disease, pregnancies were complicated by vaso-occlusive crises (VOCs)/acute pain crises (APCs) (96%, 23/24); acute chest syndrome (ACS) (13%, 3/24), transfusion demand (79%, 19/24), urinary tract infections (UTIs) (42%, 10/24) and thromboembolic events (8%, 2/24). In HbS/C patients complications included: VOCs/APCs (43%, 3/7; ACS: 14%, 1/7), transfusion demand (14%, 1/7), and UTIs (14%, 1/7). Independent of preterm deliveries, a significant difference with respect to neonatal growth in favor of neonates from HbS/C mothers was observed. Conclusion: Our data support the results of previous studies, highlighting the high rate of maternal and fetal/neonatal complications in pregnant SCD patients.

scholarly journals Role of the Spleen and Effect of Splenectomy in Sickle Cell Disease

Blood ◽  
1958 ◽  
Vol 13 (6) ◽  
pp. 569-581 ◽  
Author(s):  
C. C. SPRAGUE ◽  
J. C. S. PATERSON
Keyword(s):  
Sickle Cell Disease ◽  
Adult Patient ◽  
Survival Time ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Cell Disease ◽  
Erythrocyte Survival ◽  
Effect Of Splenectomy ◽  
Hb C

Abstract The survival of sickle cell anemia and sickle-cell/Hb-C erythrocytes was determined by the radioactive chromium method, both in their parent circulations and in the circulations of compatible normal recipients. In sickle cell anemia patients with splenomegaly the average erythrocyte survival time (T½) was found to be 3.7 days. After splenectomy T½ increased to an average of 11.4 days. In sickle cell anemia patients without splenomegaly the average T½ was found to be 10 days. In five instances an average T½ of 9.2 days was found, whereas the average T½ for the same cells in the circulations of normal recipients was 4.4 days. In sickle-cell/Hb-C disease the average T½ was 15.7 days. Following splenectomy in two patients, T½ was unchanged in one and increased in the second. T½ was shortened in two of three instances when these cells were transfused into normal recipients, but the data are insufficient to permit conclusions to be drawn. The role of the spleen in hemolysis is discussed briefly and it is concluded that the hemolytic process in sickle cell anemia is accelerated in the presence of a spleen. This finding is compatible with the diminution in the severity of sickle cell anemia frequently recognized in the adult patient whose spleen has atrophied, and in the child following splenectomy. The validity of the chromate-tagging method for determining erythrocyte survival is discussed. Splenectomy was performed in children in whom the erythrocyte survival was shortened (T½ less than 6 days).

scholarly journals Erythrocytapheresis therapy to reduce iron overload in chronically transfused patients with sickle cell disease

Blood ◽  
1994 ◽  
Vol 83 (4) ◽  
pp. 1136-1142 ◽  
Author(s):  
HC Kim ◽  
NP Dugan ◽  
JH Silber ◽  
MB Martin ◽  
E Schwartz ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Iron Overload ◽  
Sickle Cell ◽  
Chelation Therapy ◽  
Iron Chelation ◽  
Cell Disease ◽  
Donor Blood ◽  
Iron Load ◽  
Blood Usage ◽  
Hb S

Abstract Chelation therapy with deferoxamine is effective in preventing the risk of transfusional iron overload, but treatment failure is common because of noncompliance. To reduce the transfusional iron load, we have evaluated longterm erythrocytapheresis in 14 subjects with sickle cell disease and stroke (11) or other complications (3) as an alternative to simple transfusion. Subjects were treated with erythrocytapheresis using the Haemonetics V50 (Haemonetics Corp, Braintree, MA) to maintain the target pretransfusion hemoglobin S (Hb S) level less than 50% for 6 to 71 months. The transfusional iron load and the donor blood usage were analyzed for a 6- to 36-month study period and were compared with similar data from a subset of 7 subjects previously treated with conventional (target Hb S < 30%) and modified (target Hb S < 50%) simple transfusion protocols. The effect of erythrocytapheresis on iron accumulation was determined by assessment of serum ferritin levels in the absence of iron chelation. The mean transfusional iron load and donor blood usage with erythrocytapheresis were 19 +/- 14 mg iron/kg/yr (range, 6 to 50) and 188.4 +/- 55.2 mL packed-red blood cells (RBC)/kg/yr (range, 107 to 281), respectively. Of 6 subjects receiving no iron chelation therapy, 5 maintained normal or nearly normal serum ferritin levels during 11 to 36 months of erythrocytapheresis. In comparison with conventional simple transfusion and modified simple transfusion, erythrocytapheresis reduced iron loading by 87% (P < .01) and 82% (P < .01), respectively, but increased donor blood usage by 23% and 73%, respectively. Subjects with pre-erythrocytapheresis Hb levels > or = 8.0 g/dL had lower iron accumulation (P < .001) and less donor blood usage (P < .005) than subjects with Hb levels < or = 8.0 g/dL. Although donor blood usage is increased in comparison with simple transfusion, long-term erythrocytapheresis markedly reduces or prevents iron accumulation. This form of transfusion therapy allows the cessation of iron chelation in well-chelated subjects and, if used as the initial form of transfusion therapy, may prevent long-term complications of sickle cell disease without risk of iron overload and the need for chelation therapy.

Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait

Blood ◽  
2010 ◽  
Vol 116 (15) ◽  
pp. 2822-2825 ◽  
Author(s):  
Jeffrey J. Swensen ◽  
Archana M. Agarwal ◽  
Jose M. Esquilin ◽  
Sabina Swierczek ◽  
Ajay Perumbeti ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Uniparental Disomy ◽  
Mendelian Inheritance ◽  
Cell Disease ◽  
Erythroid Progenitors ◽  
Mendelian Genetics ◽  
Abnormal Hemoglobin ◽  
Hb S

Abstract Sickle cell disease (SCD) is a classic example of a disorder with recessive Mendelian inheritance, in which each parent contributes one mutant allele to an affected offspring. However, there are exceptions to that rule. We describe here the first reported case of conversion of inherited sickle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS and AS erythrocytes. A 14-year-old boy presented with splenomegaly and hemolysis. Although his father has sickle cell trait, his mother has no abnormal hemoglobin (Hb). DNA sequencing, performed to rule out Hb S/β-thalassemia, detected homozygous Hb SS. Further studies revealed mosaic UPD of the β-globin locus, more SS erythroid progenitors than AS, but a reverse ratio of erythrocytes resulting from the survival advantage of AS erythrocytes. This report exemplifies non-Mendelian genetics wherein a patient who inherited sickle cell trait has mild SCD resulting from postzygotic mitotic recombination leading to UPD.

scholarly journals Biologic Complexity in Sickle Cell Disease: Implications for Developing Targeted Therapeutics

2013 ◽  
Vol 2013 ◽  
pp. 1-12 ◽  
Author(s):  
Beatrice E. Gee
Keyword(s):  
Clinical Trials ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Vascular Occlusion ◽  
Current Therapy ◽  
Cell Disease ◽  
Primary Defect ◽  
Relative Contribution ◽  
Hb S

Current therapy for sickle cell disease (SCD) is limited to supportive treatment of complications, red blood cell transfusions, hydroxyurea, and stem cell transplantation. Difficulty in the translation of mechanistically based therapies may be the result of a reductionist approach focused on individual pathways, without having demonstrated their relative contribution to SCD complications. Many pathophysiologic processes in SCD are likely to interact simultaneously to contribute to acute vaso-occlusion or chronic vasculopathy. Applying concepts of systems biology and network medicine, models were developed to show relationships between the primary defect of sickle hemoglobin (Hb S) polymerization and the outcomes of acute pain and chronic vasculopathy. Pathophysiologic processes such as inflammation and oxidative stress are downstream by-products of Hb S polymerization, transduced through secondary pathways of hemolysis and vaso-occlusion. Pain, a common clinical trials endpoint, is also complex and may be influenced by factors outside of sickle cell polymerization and vascular occlusion. Future sickle cell research needs to better address the biologic complexity of both sickle cell disease and pain. The relevance of individual pathways to important sickle cell outcomes needs to be demonstratedin vivobefore investing in expensive and labor-intensive clinical trials.

scholarly journals An unusual case of sarcoidosis in an adult patient with sickle cell disease: Management with methotrexate and low dose of steroid

2013 ◽  
Vol 88 (3) ◽  
pp. 243-243 ◽  
Author(s):  
Letizia Delmonte ◽  
Alberto Zamo ◽  
Maurizio Cantini ◽  
Lucia de Franceschi
Keyword(s):  
Sickle Cell Disease ◽  
Disease Management ◽  
Adult Patient ◽  
Sickle Cell ◽  
Low Dose ◽  
Unusual Case ◽  
Cell Disease
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