scholarly journals Compound Heterozygous Sickle and Thalassemia Trait: A Case Report

2011 ◽  
Vol 31 (2) ◽  
pp. 130-133
Author(s):  
Bikash Shrestha ◽  
Kavita Karmacharya ◽  
Jasjit Singh ◽  
Jyoti Kotwal ◽  
Amit Devgan
Keyword(s):  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Interesting Case ◽  
Compound Heterozygous ◽  
Cell Disease ◽  
The World ◽  
Thalassemia Trait

Sickle cell disease is a type of hemoglobinopathy, which is fairly common in certain parts of the world. We would like to report an interesting case of a child who was labeled as sickle cell anemia but subsequently turned out to be a case of compound heterozygous sickle cell and thalassemia trait. Keywords: Sickle cell disease; haemoglobinopathy; thalassemia; hydroxyurea; globin; electrophoresis; HPLC DOI: 10.3126/jnps.v31i2.4414 J Nep Paedtr Soc 2010;31(2):130-133

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 Unusual association of cirrhosis and sickle cell anemia revealed by hemolytic anemia: A case report

2021 ◽  
pp. 075-077
Author(s):  
Jallouli A ◽  
Michouar M ◽  
Laghfiri N ◽  
Errami A Ait ◽  
Oubaha S ◽  
...  
Keyword(s):  
Case Report ◽  
Sickle Cell Disease ◽  
Hemolytic Anemia ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Hepatic Cirrhosis ◽  
Cell Disease ◽  
Risk Of Bleeding ◽  
Unusual Association ◽  
Hepatobiliary Complications

Hepatobiliary complications of sickle cell disease are rare, cirrhosis remains very exceptional, especially in heterozygous forms of the disease. We report the case of a 19-year-old patient whose etiologic investigation of hemolytic anemia revealed heterozygous sickle cell disease complicated by hepatic cirrhosis. The diagnosis of cirrhosis was made due to the presence of signs of hepato-cellular insufficiency, portal hypertension syndrome and hepatic dysmorphia on imaging. The etiological assessment was negative. The liver biopsy was not performed due to the risk of bleeding. The interest of this observation is to evoke hepato-biliary complications (in particular cirrhosis) in patients with sickle cell anemia, in order to avoid a pejorative evolution burdened with serious complications.

scholarly journals Is there a role for selective vasodilation in the management of sickle cell disease?

Blood ◽  
1988 ◽  
Vol 71 (3) ◽  
pp. 597-602 ◽  
Author(s):  
GP Rodgers ◽  
MS Roy ◽  
CT Noguchi ◽  
AN Schechter
Keyword(s):  
Blood Flow ◽  
Steady State ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Microvascular Obstruction ◽  
Controlled Study ◽  
Control Group ◽  
Cell Disease ◽  
Retinal Arteriolar

Abstract To test the hypothesis that microvascular obstruction to blood flow at the level of the arteriole may be significant in individuals with sickle cell anemia, the ophthalmologic effects of orally administered nifedipine were monitored in 11 steady-state patients. Three patients with evidence of acute peripheral retinal arteriolar occlusion displayed a prompt reperfusion of the involved segment. Two other patients showed fading of retroequatorial red retinal lesions. Color vision performance was improved in six of the nine patients tested. The majority of patients also demonstrated a significant decrease in the amount of blanching of the conjunctiva which reflects improved blood flow to this frequently involved area. Such improvements were not observable in a control group of untreated stable sickle cell subjects. These findings support the hypothesis that inappropriate vasoconstriction or frank vasospasm may be a significant factor in the pathogenesis of the microvascular lesions of sickle cell disease and, further, that selective microvascular entrapment inhibition may offer an additional strategy to the management of this disorder. We believe a larger, placebo-controlled study with nifedipine and similar agents is warranted.

Pathogenesis of Hyposthenuria in Sickle Cell Anemia

PEDIATRICS ◽  
1960 ◽  
Vol 26 (6) ◽  
pp. 1051-1051
Author(s):  
Clarence L. Morgan
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Genetic Defect ◽  
Urine Osmolality ◽  
Normal Kidney ◽  
Cell Disease

Schlitt and Keitel report (Pediatrics, 26: 249, 1960) complete reversibility of hyposthenuria in a 6-month-old subject with sickle cell disease following transfusion over a 4-day period of 290 ml of blood with a rise in maximal urine osmolality from 700 to 1100 mosmol/l. They cite this as evidence against an independent genetic defect being causal in the etiology of hyposthenuria in sickle cell disease. It is well known that the concentrating capacity of the normal kidney increases as the ratio of urea to other solutes in the urine approaches 0.35, and the approximate range of improvement may be from 650 to 1100 mosmol/l.1

Lead Neuropathy and Sickle Cell Disease

PEDIATRICS ◽  
1974 ◽  
Vol 54 (4) ◽  
pp. 438-441
Author(s):  
Gerald Erenberg ◽  
Steven S. Rinsler ◽  
Bernard G. Fish
Keyword(s):  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Lead Poisoning ◽  
Cell Disease ◽  
Hemoglobin S ◽  
Increased Risk ◽  
Rare Manifestation ◽  
Poisoning In Children

Four cases of lead neuropathy in children with hemoglobin S-S or S-C disease are reported. Neuropathy is a rare manifestation of lead poisoning in children, and only ten other cases have been well documented in the pediatric literature. The last previous case report of lead neuropathy was also in a child with hemoglobin S-S disease. The neuropathy seen in the children with sickle cell disease was clinically similar to that seen in the previously reported cases in nonsicklers, but differed in both groups from that usually seen in adult cases. It is, therefore, postulated that children with sickle cell disease have an increased risk of developing neuropathy with exposure to lead. The exact mechanism for this association remains unknown, but in children with sickle cell disease presenting with symptoms or signs of peripheral weakness, the possibility of lead poisoning must be considered.

PATHOGENESIS OF HYPOSTHENURIA IN PERSONS WITH SICKLE CELL ANEMIA OR THE SICKLE CELL TRAIT

PEDIATRICS ◽  
1960 ◽  
Vol 26 (2) ◽  
pp. 249-254
Author(s):  
L. Schlitt ◽  
H. G. Keitel
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Renal Damage ◽  
Sickle Cell Trait ◽  
Urinary Concentration ◽  
Cell Disease ◽  
Renal Vessels

Hyposthenuria was investigated in subjects with sickle cell trait and in patients with sickle cell anemia. The following were observed: 1) in subjects with sickle cell trait both normal and reduced maxima of urinary concentration are found, whereas all untreated patients with sickle cell anemia over 6 months of age have hyposthenuria; 2) hyposthenuria becomes increasingly more severe with advancing age in both sickle cell anemia and sickle cell trait; 3) in a 6-month-old patient with sickle cell anemia and hyposthenuria, the maxima of urinary concentration returned to normal after two transfusions of normal erythrocytes. Reasons are presented for favoring the hypothesis that hyposthenuria in sickle cell disease is due to renal damage, possibly from intravascular sickling of erythrocytes in renal vessels or from the presence of "free" circulating S-hemoglobin.

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