scholarly journals A Novel Technique of Spectral Discrimination of Variants of Sickle Cell Anemia

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Vadivel Masilamani ◽  
Sandanasamy Devanesan ◽  
Fatma AlQathani ◽  
Mashael AlShebly ◽  
Hebatullah Hassan Daban ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
High Performance ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Strong Support ◽  
Blood Disorders ◽  
Spectral Technique ◽  
Blood Disorder ◽  
Time Period

Sickle cell anemia (SCA) is an inherited blood disorder with worldwide incidence of 15%; out of this, it is found in up to 20% in countries like Kingdom of Saudi Arabia and Bahrain. The standard conventional method of detection is complete blood count (CBC) followed by hemoglobin electrophoresis or high-performance liquid chromatography (HPLC) or both. In this context, spectral detection of variants of sickle cell anemia (SCA) is an innovative technique, which when made accurate and reliable could be an effective alternative, since the instrumentation is compact (5 kg) and hence portable. This makes mass screening even in remote villages possible. In this paper, we give the essential aspects of fluorescent spectral features of sickle cell trait (SCT), sickle cell disease (SCD), beta (β) thalassemia trait (BTT) + SCD, and beta (β) thalassemia disease (BTD) + SCD. All the above four major variants could be discriminated among themselves and also from the normal control blood sample. All these analyses could be carried out with 5 ml of blood, in a time period of 10 minutes. The results of this paper give strong support for an alternative method, a spectral technique, for molecular-level diagnosis of sickle cell anemia and other closely related blood disorders.

scholarly journals Student screening for inherited blood disorders in Bahrain

2021 ◽  
Vol 9 (3) ◽  
pp. 344-352
Author(s):  
S. Al Arrayed ◽  
N. Hafadh ◽  
S. Amin ◽  
H. Al Mukhareq ◽  
H. Sanad
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
G6pd Deficiency ◽  
High Performance ◽  
Sickle Cell Trait ◽  
Disease Incidence ◽  
Cell Disease ◽  
Blood Disorders ◽  
Inherited Disorders ◽  
Beta Thalassaemia

In Bahrain and neighbouring countries inherited disorders of haemoglobin, i. e. sickle-cell disease, thalassaemias and glucose-6-phosphate dehydrogenase [G6PD] deficiency, are common. As part of the National Student Screening Project to determine the prevalence of genetic blood disorders and raise awareness among young Bahrainis, we screened 11th-grade students from 38 schools [5685 students], organized lectures and distributed information about these disorders. Haemoglobin electrophoresis, high performance liquid chromatography, blood grouping and G6PD deficiency testing were performed. Prevalences were: 1.2% sickle-cell disease; 13.8% sickle-cell trait; 0.09% beta-thalassaemia; 2.9% beta-thalassaemia trait; 23.2% G6PD deficiency; 1.9% G6PD deficiency carrier. Health education, carrier screening and premarital counselling remain the best ways to reduce disease incidence with potentially significant financial savings and social and health benefits

The HBG2 rs7482144 (C > T) Polymorphism is Linked to HbF Levels but not to the Severity of Sickle Cell Anemia

2021 ◽  
Author(s):  
Bhaskar V. K. S. Lakkakula ◽  
Smaranika Pattnaik
Keyword(s):  
Disease Severity ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
High Performance ◽  
Complete Blood Count ◽  
Small Sample Size ◽  
Severe Disease ◽  
Small Sample ◽  
Total Leucocyte Count ◽  
Severity Scores

AbstractSickle cell anemia (SCA) is a severe disease characterized by anemia, acute clinical complications, and a relatively short life span. In this disease, abnormal hemoglobin makes the red blood cells deformed, rigid, and sticky. Fetal hemoglobin (HbF) is one of the key modulators of SCA morbidity and mortality. Interindividual HbF variation is a heritable trait that is controlled by polymorphism in genes linked and unlinked to the hemoglobin β gene (HBB). The genetic polymorphisms that determine HbF levels are known to ameliorate acute clinical events. About 190 well-characterized homozygous SCA patients were included in this study. Complete blood count (CBC), high-performance liquid chromatography (HPLC), and clinical investigations were obtained from patient's records. Severity scores were determined by using the combination of anemia, complications, total leucocyte count, and transfusion scores. HBG2 rs7482144 polymorphism was genotyped by using the polymerase chain reaction and restriction fragment length polymorphism. The association between HBG2 rs7482144 polymorphism and HbF levels as well as the disease severity of SCA were assessed. SCA patients carrying TT genotype were found to have higher HbF levels. In addition, SCA patients with increased severity showed significantly lower levels of hemoglobin, HbF, and hematocrit values. However, the genotypes of HBG2 rs7482144 polymorphism were not found to be associated with the risk of disease severity. In summary, this study demonstrated that HBG2 rs7482144 polymorphism is linked with HbF levels, but it does not affect disease severity. The sample sizes used and the pattern of association deduced from our small sample size prevents us from extrapolating our findings further.

scholarly journals A clinico-haematological study of hereditary hemoglobinopathies: a tertiary care centre experience

2021 ◽  
Vol 9 (8) ◽  
pp. 2309
Author(s):  
Bhagyalakshmi Atla ◽  
Venkata Satya Kartheek Botta ◽  
Padmapriya Balakrishnan ◽  
Neelima Lalam ◽  
Anuradha Argi ◽  
...  
Keyword(s):  
Sickle Cell ◽  
High Performance ◽  
Complete Blood Count ◽  
Sickle Cell Trait ◽  
Venous Blood ◽  
Tertiary Care ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Common Symptom ◽  
Tertiary Care Centre

Background: Hemoglobinopathies are the cause of concern in India for not only its effect on the quality of life in patients but also for their inheritance patterns. Tribal population of Visakhapatnam district has a high chance of inheriting hemoglobinopathies due to their culture of consanguineous marriage. Aim and objectives of current study were to know the distribution of various abnormal haemoglobins in cases with clinical suspicion of hemoglobinopathies.Methods: This hospital-based observational study was conducted for a period of 10 months in the department of pathology, Andhra Medical College, Visakhapatnam. A total of 151 cases with suspected hemoglobinopathies, their parents, and siblings were screened for the presence of hemoglobinopathies. 3ml of venous blood was collected to perform complete blood count, peripheral smear, reticulocyte count, sickling test and High Performance liquid chromatography (HPLC).Results: In the present study, out of 151 cases, 55 cases (36.42%) were adults, and 96 cases (63.57%) cases were children. 67cases (44.37%) were asymptomatic and 84 (55.62%) were symptomatic. The most common symptom of subjects are fever (23 cases, 27.38%) and dyspnoea (22 cases, 26.19%). 85 cases (56.29%) had normal HPLC, and 66 cases (43.70%) had abnormal hemoglobin variants. The most common hemoglobinopathy detected by HPLC was sickle cell trait (36 cases, 23.84%) followed by homozygous sickle cell anemia 15 (9.93%). Other hemoglobinopathies detected were beta-thalassemia trait; 8 cases (5.29%) and compound heterozygous sickle beta-thalassemia 3 cases (1.98%).Conclusions: Endemic areas for hemoglobinopathies has to be screened with HPLC along with complete hemogram in suspicious cases for the better diagnosis and management of the condition.

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.

scholarly journals Elastic property of sickle cell anemia and sickle cell trait red blood cells

2021 ◽  
Vol 26 (09) ◽  
Author(s):  
Endris Muhammed ◽  
James Cooper ◽  
Daniel Devito ◽  
Robert Mushi ◽  
Maria del Pilar Aguinaga ◽  
...  
Keyword(s):  
Elastic Property ◽  
Red Blood Cells ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Blood Cells ◽  
Sickle Cell Trait

scholarly journals Progressive glomerular and tubular damage in sickle cell trait and sickle cell anemia mouse models

2018 ◽  
Vol 197 ◽  
pp. 1-11 ◽  
Author(s):  
Santosh L. Saraf ◽  
Justin R. Sysol ◽  
Alexandru Susma ◽  
Suman Setty ◽  
Xu Zhang ◽  
...  
Keyword(s):  
Mouse Models ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Tubular Damage

Sickle Cell Trait and Sickle Cell Anemia: A Review

1983 ◽  
Vol 148 (9) ◽  
pp. 701-706 ◽  
Author(s):  
Georges C. Benjamin
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait

scholarly journals Inverse correlation between cerebral blood flow measured by continuous arterial spin-labeling (CASL) MRI and neurocognitive function in children with sickle cell anemia (SCA)

Blood ◽  
2006 ◽  
Vol 108 (1) ◽  
pp. 379-381 ◽  
Author(s):  
John J. Strouse ◽  
Christiane S. Cox ◽  
Elias R. Melhem ◽  
Hanzhang Lu ◽  
Michael A. Kraut ◽  
...  
Keyword(s):  
Blood Flow ◽  
Cerebral Blood Flow ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Arterial Spin Labeling ◽  
Complete Blood Count ◽  
Spin Labeling ◽  
Neurocognitive Impairment ◽  
Continuous Arterial Spin Labeling ◽  
L 14

Overt stroke, clinically “silent” cerebral infarct, and neurocognitive impairment are frequent complications of sickle cell anemia (SCA). Current imaging techniques have limited sensitivity and specificity to identify children at risk for neurocognitive impairment. We prospectively evaluated 24 children with SCA with a neurologic exam, complete blood count, transcranial Doppler ultrasound (TCD), measurement of intelligence quotient (IQ), and magnetic resonance imaging (MRI) with measurement of cerebral blood flow (CBF) using continuous arterial spin-labeling (CASL) MRI. Average CBF to gray matter was 112 ± 36 mL/100 g/min. We identified a strong inverse relationship between performance IQ and CBF (-1.5 points per 10 mL/100 g/min increase in CBF, P = .013). Elevated steady-state white blood cell count (≥ 14 × 109/L [14 000/μL]) was associated with lower full scale IQ (86 ± 9 vs 99 ± 10, P = .005). CASL MRI may identify children with neurocognitive impairment, before damage is evident by structural MRI or TCD. (Blood. 2006;108:379-381)

scholarly journals Sickle-Cell Anemia in South Turkey. A Study of Fifteen Cases in Twelve White Families

Blood ◽  
1956 ◽  
Vol 11 (5) ◽  
pp. 460-472 ◽  
Author(s):  
MUZAFFER AKSOY
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Frequent Occurrence ◽  
White Families ◽  
White Community ◽  
High Incidence ◽  
Southern Turkey

Abstract 1. Fifteen cases of sickle-cell anemia in twelve white families in southern Turkey are reported. 2. In all these cases of sickle-cell anemia and their families, there was no suggestion of anything Negroid in their features or coloring. 3. The hereditary trait of these patients has been investigated. In 53 healthy members of twelve families 37 persons had sickle-cell traits. 4. With the exception of case 12, both parents of all cases had sickle-cell trait. 5. The possible explanations of the frequent occurrence of sickle-cell anemia and the fairly high incidence of sickle-cell trait in this white community have also been considered.

scholarly journals Genetic Aspects of Sickle Cell Anemia and Microdrepanocytic Disease

Blood ◽  
1952 ◽  
Vol 7 (4) ◽  
pp. 429-435 ◽  
Author(s):  
E. SILVESTRONI ◽  
I. BIANCO
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Genetic Data ◽  
The Other ◽  
Moderate Degree ◽  
Simultaneous Presence ◽  
Genetic Studies ◽  
Asymptomatic Individuals ◽  
Degree Of Severity

Abstract 1. A brief review is presented of the genetic theories of sickle cell anemia and the sickle cell trait. 2. The genetic data on 2 families of asymptomatic individuals with the sickle cell trait and of 3 families of patients with sickle cell anemia are reported. These data confirm the heterozygous-homozygous theory of Neel. 3. The possibility is considered that many of the cases of sickle cell anemia described in the white race are actually examples of "microdrepanocytic disease." 4. Microdrepanocytic disease is a new syndrome, first described by the authors from Italy. It has some of the characteristics of both sickle cell anemia and Mediterranean anemia. On the basis of studies in 11 families, the presence of the sickle cell trait in one parent and of microcythemia (Mediterranean anemia trait) in the other, results in microdrepanocytic disease in some of the offspring. Hematologic studies in these patients indicate the simultaneous presence of both sickle cell and microcythemic genes. 5. Genetic studies of these families suggests that the genes for microcythemia and for sicklemia are located on different chromosomes and are inherited independently of each other. On the other hand, their simultaneous presence leads to a disease of a moderate degree of severity having many of the features of sickle cell anemia.

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