Defining the Phenotypes of Sickle Cell Disease

Ballas, Samir K.

doi:10.3109/03630269.2011.610477

Cited by 20 publications

(13 citation statements)

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“…The clinical phenotypes associated with sickle cell anemia were as defined by Ballas (2011) [12]. Physical examination particularly for splenomegaly and for arterial blood pressure was performed for all enrollees.…”

Section: Methodsmentioning

confidence: 99%

Doppler-Defined Pulmonary Hypertension in Sickle Cell Anemia in Kurdistan, Iraq

2016

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To determine the frequency, clinical and laboratory associations of pulmonary hypertension in Iraqi Kurds with sickle cell anemia, a total of ninety four such patients attending a major hemoglobinopathy center in Iraqi Kurdistan were enrolled. All patients were re-evaluated clinically and had their blood counts, HbF, serum ferritin, LDH, renal and liver function assessed. Transthoracic Doppler echocardiography with measurement of tricuspid valve regurgitant jet velocity (TRV) was performed. A TRV in excess of 2.8 m/s was considered for the purposes of this study as indicative of pulmonary hypertension (PH). The prevalence of TRV in excess of 2.8m/s was 10.6%. By univariate analysis: significantly higher reticulocyte count, more frequent blood transfusions and pain episodes were encountered in the PH group as compared to the non-PH group (p = 0.001, 0.045 and 0.02 respectively). Moreover, PH patients had significantly higher mean right atrial area, left atrial size, E wave/A wave ratio and ejection fraction by echocardiography (p = 0.027, 0.037, <0.001 and 0.008 respectively). Except for reticulocyte count none of the other parameters remained significant by multivariate analysis (p = 0.024). In conclusion the current study revealed that pulmonary hypertension is rather frequent among Iraqi Kurds with sickle cell anemia, and identified reticulocyte count as an independently associated parameter with PH in this population. Future prospective studies including right heart catheterization and appropriate medical intervention are warranted.

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Section: Methodsmentioning

confidence: 99%

Doppler-Defined Pulmonary Hypertension in Sickle Cell Anemia in Kurdistan, Iraq

2016

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“…Despite the “simplicity” of the gene defect, there is no distinct clinical phenotype [9, 11, 14]. Patients may have any number of clinical sequelae: stroke, acute chest syndrome, chronic pain, acute pain crisis, pulmonary hypertension, leg ulcers and renal dysfunction.…”

Section: Introductionmentioning

confidence: 99%

Simple chronic transfusion therapy, a crucial therapeutic option for sickle cell disease, improves but does not normalize blood rheology: What should be our goals for transfusion therapy?

Detterich

2018

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Sickle cell anemia is characterized by a mutation resulting in the formation of an abnormal beta-hemoglobin called hemoglobin S. Hemoglobin S polymerizes upon deoxygenation, causing impaired red blood cell deformability and increased blood viscosity at equivalent hematocrits. Thus, sickle cell disease is a hemorheologic disease that results in various pathologic processes involving multiple organ systems including the lungs, heart, kidneys and brain. Red blood cell mechanics and the perturbations on blood flow-endothelial interaction underlie much of the pathology found in sickle cell disease. Transfusion therapy is one of the few therapeutic options available to patients, acting as both primary and secondary prevention of stroke. Transfusion therapy, both simple and exchange, is also used for unremitting and frequent pain crises and pulmonary hypertension. Therefore, understanding basic rheologic changes following transfusion inform other therapeutic options that aim to mitigate this diffuse pathologic process. This review will aim to highlight transfusion effects on blood rheology.

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“…Furthermore, the CSSD showed that the largest killer in SCD was infection, with this being the cause of death in 50% of subjects being followed below the age of 20 [20]. Infection was also shown to be a predominant factor in Sickle Cell Disease -Pain and Common Chronic Complicationsother studies of mortality [21,22] with pneumococcal disease being identified as a major killer [19,20]. It has even been calculated that the risk of developing meningitis from Streptococcus pneumoniae is 30 times more likely in the sickle cell population than in the general population [23].…”

Section: Prophylactic Penicillin and Pneumococcal Vaccinationmentioning

confidence: 99%

“…However, the term 'sickle cell anaemia' was not coined until 1922 [19], when a review of the first four cases of the disease was conducted, including that described by Herrick [20,21].…”

Section: Early Descriptionmentioning

confidence: 99%

“…The cooperative study of the natural history of sickle cell disease showed that about 5% of patients accounted for one-third of hospital days devoted to pain control [19]. Acute VOC and chronic pain syndrome could be disabling to the patient, and studies have demonstrated an association of acute pain syndromes with other complications of SCD, including death [19,47].…”

Section: Pain Managementmentioning

confidence: 99%

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