scholarly journals Evaluating the role of indirect bilirubin, urobilinogen and Shine and Lal index as an alternative screening tool for beta thalassemia minor

Author(s):  
Ridham Khanderia ◽  
Amit Agravat
2018 ◽  
Vol 10 (04) ◽  
pp. 370-373
Author(s):  
Dilan J. Albarawi ◽  
Amer A. Balatay ◽  
Nasir Al-Allawi

ABSTRACT PURPOSE: Hemoglobin (Hb) F% is increased in up to half of beta-thalassemia (β-thal) carriers. Several polymorphisms have been linked to such variability in different populations, including HBG2 - 158(C>T) (Xmn I polymorphism) on chromosome 11. To determine the role of this polymorphism in such variability among Iraqi Kurds, the current study was initiated. MATERIALS AND METHODS: A total of 102 consecutive patients diagnosed as β-thal minor were enrolled. The enrollees had their diagnosis based on peripheral blood counts and high-performance liquid chromatography to determine HbA2 and HbF. All enrollees had their DNA extracted by phenol-chloroform method and Xmn I polymorphism detected by restriction fragment length polymorphism-polymerase chain reaction. RESULTS: The mean age (standard deviation [SD]) of the 102 enrollees was 25.4 (14.0) years, and the enrollees included 48 males and 54 females. Xmn I polymorphism was identified in heterozygous state in 46 (45.1%) patients and in homozygous state in one patient (0.98%). Thus, the minor allele frequency of this polymorphism was 0.235 in the studied group. There were no significant differences in red cell indices and HbA2% in carriers of the minor allele compared to noncarriers, while HbF% and absolute HbF concentrations were significantly higher in the former subgroup (P = 0.032 and 0.014, respectively). This polymorphism's contribution to HbF variability was found to be 5.8% in the studied sample. Furthermore, those with HbF ≥2% were 3.2 folds more likely to carry the minor allele. CONCLUSIONS: Xmn I polymorphism is frequently encountered in Iraqi Kurds with β-thal minor, and it is significantly associated with higher fetal hemoglobin in these patients.


2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 19600-19600
Author(s):  
H. J. Soto Parra ◽  
E. Medula ◽  
F. Latteri ◽  
G. Lavenia ◽  
P. Amadio ◽  
...  

19600 Background: β-Thalassemia minor (β-Tm) is the most common hereditary disorder in the Mediterranean region with a prevalence of 6% in Sicily. β-Tm is characterised by mild anemia (A). Therefore, we performed a retrospective analysis to evaluate the course of A in β-Tm pts with solid tumors (ST) undergoing chemotherapy (CT). Methods: β-Tm pts with ST were identified from our clinical record database [history and/or hemoglobin (Hb) A2 level > 3.3%]. Inclusion criteria were first-line or second-line CT after a CT-free interval of 6 mos. Exclusion criteria:concomitant radiotherapy (RT) , or previous RT to pelvic region, or active bleeding. Results: From July 2004 until the present day, 26 β-Tm pts with ST have been observed, and 23 fulfil the criteria of this analysis. The pt demography was as follows: median age, 56 years (range, 38–76 years); Males: 9 pts; PS 0/1: 19/4; stage IV: 10; types of cancers: breast 7, gastrointestinal 7, others 9; platinum containing regimen: 7. A was evaluated during first and second-line treatments in 19 and 4 pts, respectively. The mean values of Hb and the incidence of pts (%) with mild (from ≥10 and <12 gr/dl) or moderate (<10 gr/dl) A during CT, were as follows. No paradoxical effect of CT on the Hb level was observed. One pt received transfusions (Hb level, 7.8 gr/dl). Nine pts were treated with epoetin (darbepoetin alfa, 7 pts) and iron supplements due to worsening A (mean Hb value = 9 gr/dl ± 0.6): five pts experienced a ≥2 gr/dl increase in the Hb level at 8 weeks, one had >1 gr/dl, one had stable values = 9 gr/dl, and two pts had decreased values, i.e. < 8 gr/dl, and required transfusions. Conclusion: This analysis demonstrates that 70% of β-Tm pts with ST have mild or moderate A prior to CT. The A of β-Tm patients is worsened by CT and results in moderate A in 55% of the pts. Epoetins, particularly effectively ameliorate A when administered to pts with Hb levels of <10 gr/dl. This data suggests that epoetin treatment during CT may benefit β-Tm pts; however, prospective trials are required. No significant financial relationships to disclose. [Table: see text]


2020 ◽  
Vol 36 (4) ◽  
pp. 719-724 ◽  
Author(s):  
Mudita Bhargava ◽  
Varsha Kumar ◽  
Himansha Pandey ◽  
Vasudha Singh ◽  
Vatsala Misra ◽  
...  

HemaSphere ◽  
2019 ◽  
Vol 3 (S1) ◽  
pp. 1068
Author(s):  
A. Mahesar ◽  
M. Mazari

Author(s):  
Balraj Singh ◽  
Parminder Kaur ◽  
Michael Maroules

COVID-19, caused by severe acute respiratory syndrome coronavirus 2 infection, has caused the ongoing global pandemic. Initially considered a respiratory disease, it can manifest with a wide range of complications (gastrointestinal, neurological, thromboembolic and cardiovascular) leading to multiple organ dysfunction. A range of immune complications have also been described. We report the case of a 57-year-old man with a medical history of hypertension, prediabetes and beta thalassemia minor, who was diagnosed with COVID-19 and subsequently developed fatigue and arthralgias, and whose blood work showed hyperferritinemia, elevated liver enzymes (AST/ALT/GGT), hypergammaglobulinemia, anti-smooth muscle antibody, anti-mitochondrial antibody, and anti-double-stranded DNA antibodies. The patient was diagnosed with autoimmune hepatitis–primary biliary cholangitis overlap syndrome triggered by COVID-19. To our knowledge, this is the first such case reported.


2015 ◽  
Vol 42 (4) ◽  
pp. 389-392 ◽  
Author(s):  
Joseph T. Poterucha ◽  
Sudhakar K. Venkatesh ◽  
Jennifer L. Novak ◽  
Frank Cetta

Hepatic dysfunction after the Fontan surgical palliation runs an indolent course. Moreover, there is no standard method of evaluating hepatic dysfunction. Magnetic resonance elastography has emerged as an advanced screening tool for preclinical detection of hepatic fibrosis and cirrhosis. We describe the case of a patient who had undergone Fontan palliation, and then developed liver nodules and elevated tumor markers 18 years later. Her case illustrates the challenges in diagnostic management of hepatic dysfunction and the potential role of magnetic resonance elastography in monitoring these patients.


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