Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia

Olatunya, Oladele Simeon; Albuquerque, Dulcinéia Martins; Adekile, Adekunle; Costa, Fernando Ferreira

doi:10.1002/jcla.22656

Cited by 11 publications

(11 citation statements)

References 43 publications

(92 reference statements)

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“…The habitual Hb concentration in our patient was only moderately lowered (~9 g/dl), consistent with previous findings in patients with similar triplet mutations [9]. Reportedly, SCD patients who are heterozygote for HbS and alpha-thalassemia usually have mild hemolytic anemia [10,11]. In contrast, studies in SCD patients with concomitant G6PD have shown no clear effect regarding the degree of hemolytic anemia [12,13].…”

Section: Discussionsupporting

confidence: 90%

Life-Threatening Acute Chest Syndrome in a Patient With Sickle Cell Disease After Switching From Hydroxyurea Therapy to Partial Exchange Transfusions: A Case Report

Kvam¹,

Torp²,

Iversen³

2021

Cureus

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Acute chest syndrome (ACS) is a severe form of vaso-occlusive crisis, which is a main feature of sickle cell disease (SCD), an inherited hemoglobinopathy. Traditionally, hydroxyurea has been the treatment of choice for SCD to prevent vaso-occlusive crises including ACS. However, hydroxyurea may be contraindicated, for example, in patients wanting to have children. We here present a young male with SCD who wanted to become a father and developed a life-threatening episode of ACS following discontinuation of hydroxyurea and switching to partial exchange blood transfusions. The patient, aged 32 years and originally from Bahrain, had been diagnosed with homozygous SCD, alpha-thalassemia, and glucose-6-phosphate dehydrogenase deficiency as a child. He had an episode of ACS with moderate severity in 2008, after which he started using hydroxyurea. From 2008 until the present, he did not experience any episodes of ACS. About six months before the present episode, he stopped using hydroxyurea and switched to partial exchange transfusions, aiming to keep hemoglobin S (HbS) below 30%. The interval between the transfusions was typically about seven to eight weeks. On the evening (day 1) before hospital admission, he developed typical symptoms and signs of vaso-occlusive crisis, and during the first day in the hospital (HbS about 55%), his pulmonary function deteriorated, and he also developed cerebral symptoms (somnolence and confusion). On suspicion of ACS, a full blood exchange transfusion was administered on day 3. He then gradually recovered clinically, and his laboratory values also normalized. He was discharged on day 10. Subsequent follow-up visits at the outpatient clinic the following month were unremarkable. Possibly, this severe episode of ACS was triggered by switching from hydroxyurea therapy to partial exchange transfusions with too long intervals between the transfusions. This novel case is a compelling reminder of the possible perils that may accompany the discontinuation of hydroxyurea, the best-documented therapy in SCD.

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Section: Discussionsupporting

confidence: 90%

Life-Threatening Acute Chest Syndrome in a Patient With Sickle Cell Disease After Switching From Hydroxyurea Therapy to Partial Exchange Transfusions: A Case Report

Kvam¹,

Torp²,

Iversen³

2021

Cureus

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“…Olatunya et al performed a cross-sectional retrospective study on 100 young Nigerian patients with SCA and 63 controls. Their study confirms that coexistence of alpha-thalassemia with SCA significantly influences both the clinical and laboratory manifestations with increased bone pain crisis and protection against leg ulcers [ 35 ].…”

Section: Discussionsupporting

confidence: 52%

Varied Age of First Presentation of Sickle Cell Disease: Case Presentations and Review

Claeys

Steijn

Kesteren

et al. 2021

Case Reports in Medicine

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Sickle cell disease is a multisystem condition characterized by hemolytic anemia and vasoocclusion. Not only are the symptoms of the first presentation but also the ages of presentation are very variable. Following three case reports, different causes of possible late presentation are discussed. Many factors are responsible for the age at which sickle cell disease is diagnosed: doctor’s delay (unfamiliarity with the disease), patient’s delay (education and financial position of the parents, cultural factors), high- versus low-resource country (availability of newborn screening), fetal hemoglobin, reticulocyte count, and genetic modulators, such as SCD genotype, alpha-thalassemia, fetal hemoglobin concentration, and G6PD deficiency. The individual course of sickle cell disease depends on (epi) genetic and environmental properties and the underlying interactions. In further studies, the role of each factor should be evaluated more deeply, and its use as a marker of disease severity or activity should be assessed.

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“…α‐3.7 kb thalassemia deletion is the most common alpha‐thalassemia deletion in sub‐Sahara African populations and is a well‐known genetic modifier of SCA. Varied prevalence of α‐thalassemia deletion (‐α 3.7 ) has been reported from different populations among persons with SCA: 30% in Brazil, 37% in Cameroon, 41–43% in Nigeria, 48% in France, and 56% in Tanzania 10‐15 . Co‐inheritance of α 3.7 ‐thalassemia with SCA is associated with increased risk of avascular necrosis and vaso‐occlusive crises while it improves survival, reduces rate of leg ulcers, the need for blood transfusion, and stroke risk 11,16,17 .…”

Section: Introductionmentioning

confidence: 99%

Association of alpha‐thalassemia and Glucose‐6‐Phosphate Dehydrogenase deficiency with transcranial Doppler ultrasonography in Nigerian children with sickle cell anemia

Ojewunmi

Adeyemo

Oyetunji

et al. 2021

Clinical Laboratory Analysis

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Background Stroke is a devastating complication of sickle cell anemia (SCA) and can be predicted through abnormally high cerebral blood flow velocity using transcranial Doppler Ultrasonography (TCD). The evidence on the role of alpha‐thalassemia and glucose‐6‐phosphate dehydrogenase (G6PD) deficiency in the development of stroke in children with SCA is conflicting. Thus, this study investigated the association of alpha‐thalassemia and G6PD(A−) variant with abnormal TCD velocities among Nigerian children with SCA. Methods One hundred and forty‐one children with SCA were recruited: 72 children presented with normal TCD (defined as the time‐averaged mean of the maximum velocity: < 170 cm/s) and 69 children with abnormal TCD (TAMMV ≥ 200 cm/s). Alpha‐thalassemia (the α‐3.7 globin gene deletion) was determined by multiplex gap‐PCR, while G6PD polymorphisms (202G > A and 376A > G) were genotyped using restriction fragment length polymorphism—polymerase chain reaction. Results The frequency of α‐thalassemia trait in the children with normal TCD was higher than those with abnormal TCD: 38/72 (52.8%) [α‐/ α α: 41.7%, α ‐/ α ‐: 11.1%] versus 21/69 (30.4%) [α‐/ α α: 27.5%, α ‐/ α ‐: 2.9%], and the odds of abnormal TCD were reduced in the presence of the α‐thalassemia trait [Odds Ratio: 0.39, 95% confidence interval: 0.20–0.78, p = 0.007]. However, the frequencies of G6PDA− variant in children with abnormal and normal TCD were similar (11.6% vs. 15.3%, p = 0.522). Conclusion Our study reveals the protective role of α‐thalassemia against the risk of abnormal TCD in Nigerian children with SCA.

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Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia

Cited by 11 publications

References 43 publications

Life-Threatening Acute Chest Syndrome in a Patient With Sickle Cell Disease After Switching From Hydroxyurea Therapy to Partial Exchange Transfusions: A Case Report

Life-Threatening Acute Chest Syndrome in a Patient With Sickle Cell Disease After Switching From Hydroxyurea Therapy to Partial Exchange Transfusions: A Case Report

Varied Age of First Presentation of Sickle Cell Disease: Case Presentations and Review

Association of alpha‐thalassemia and Glucose‐6‐Phosphate Dehydrogenase deficiency with transcranial Doppler ultrasonography in Nigerian children with sickle cell anemia

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