Haemoglobinopathies constitute the commonest recessive monogenic disorders worldwide, and the treatment of affected individuals presents a substantial global disease burden. Carrier identification and prenatal diagnosis represent valuable procedures that identify couples at risk for having affected children, so that they can be offered options to have healthy offspring. Molecular diagnosis facilitates prenatal diagnosis and definitive diagnosis of carriers and patients (especially ‘atypical’ cases who often have complex genotype interactions). However, the haemoglobin disorders are unique among all genetic diseases in that identification of carriers is preferable by haematological (biochemical) tests rather than DNA analysis. These Best Practice guidelines offer an overview of recommended strategies and methods for carrier identification and prenatal diagnosis of haemoglobinopathies, and emphasize the importance of appropriately applying and interpreting haematological tests in supporting the optimum application and evaluation of globin gene DNA analysis.

/pdf/emqn-best-practice-guidelines-for-molecular-and-haematology-1iazrv6qcm.pdf

EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

Objectives To compare two hematological analyzers—the DxH-800 (DxH; Beckman-Coulter, Miami, FL) and XN-2000 (XN; Sysmex, Kobe, Japan)—with the Cell-Dyn Sapphire (SAPH; Abbott, Santa Clara, CA)

Methods We analyzed 4,375 samples Slide reviews were made in the presence of blast, abnormal lymphocyte, and immature granulocyte (IG) flags or nucleated RBC (NRBC) count

Results The analyzers exhibited excellent correlations for CBC and neutrophils but displayed a limit correlation for lymphocytes The XN did not miss circulating blasts (05%–95% in microscopy) For NRBCs, the XN demonstrated a sensitivity of 90%; DxH, 74%; and SAPH, 29% Only the XN demonstrated a correlation with microscopy, permitting a WBC six-part differential until 15% of NRBCs The XN and DxH gave useful IG counts with a cutoff less than 5% and a WBC level more than 2,500/mm3 For abnormal lymphocytes detection, only XN demonstrated sensitivity of more than 95%, but its specificity of 54% requires adaptation

Conclusion The XN increases the sensitivity of abnormal cell detection compared with the other counters, permitting a seven-part differential between predefined levels, decreasing the slide review from 20% to 9%

Performance and Abnormal Cell Flagging Comparisons of Three Automated Blood Cell Counters

The consistent multi-ethnic migrations of the last decades have considerably changed the epidemiology of the hemoglobinopathies. Healthy carriers of these conditions are present today in many nonendemic parts of the world, and severely affected children are now born where these diseases were previously rare or unknown. Improving the competence in carrier diagnostics at the laboratory level is one of the first concerns when introducing management and primary prevention of the severe conditions in nonendemic areas. This review describes how and when carriers should be correctly diagnosed and informed. The essential technologies needed for basic carrier diagnostics in different situations are summarized in some detail, and interpretation of the results and a number of related problems are discussed. The role of the hematology laboratory is essential, particularly in nonendemic areas where the first line of health care is often insufficiently aware of hemoglobinopathy management. Carriers living in nonendemic areas can be appropriately diagnosed and informed regarding genetic risk and prevention by well-organized laboratories. Both basic and specialized diagnostics are needed for the correct treatment for the anemic carriers, for primary prevention in couples at risk and for state-of-the art care of severely affected patients.

https://www.onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.12037

Strategies for basic laboratory diagnostics of the hemoglobinopathies in multi-ethnic societies: interpretation of results and pitfalls.

Objectives

Beta thalassaemia major (β-TM) and sickle-cell disease (SCD) are severe haemogobinopathies requiring life-lasting, advanced medical management. In the Mediterranean region, both conditions occur with high frequency. We assessed the efficacy of the National Program for the Prevention of Haemoglobinopathies in Greece during the last 30 yrs.



Methods

Data of affected births between 01/01/1980 and 31/12/2009 were collected in a nationwide scale, and expected vs. observed rates of new births were calculated and compared. In a subpopulation of affected births of Greek origin, the causes for occurrence of the new affected birth were also collected and analysed.



Results

Overall, the reduction in new cases was 81.1% and 84.6% for β-TM and SCD, respectively. For β-TM, a constant declining trend was recorded over the 30-yr period, whereas for SCD, a transient reversal was observed in the mid-1990s probably due to the significant influx of immigrants of African origin. Programme failure was 2.2 times more common among new β-TM births of Greek origin compared to new SCD cases (P < 0.001). Unawareness and parental choice were more frequent in SCD compared to β-TM (unawareness: OR = 1.4, P = 0.05, parental choice: OR = 1.9, P = 0.01). The main cause for programme failure was carrier misidentification and incorrect genetic advice for β-TM and SCD, respectively.



Conclusions

The β-TM and SCD prevention programme in Greece has significantly reduced the numbers of new affected births. The outcomes could be optimised in groups of non-Greek origin, in carrier identification and by offering specialised genetic counselling.

Thirty-year experience in preventing haemoglobinopathies in Greece: achievements and potentials for optimisation

Thalassemia is the most widespread recessive disease worldwide (Ryan et al. 2010; Weatherall and Clegg 2001). Beta-thalassemia is characterized by the deficiency or absence of beta globin production. The condition is clinically mild in the healthy carrier that can be easily detected through routine blood testing, but intermediate or severe in the patients who are born with 25 % chance at each pregnancy from parents who are both healthy carriers.

Thalassemia carriers are today present worldwide with high frequencies mainly in the endemic countries of Africa, the Middle East, the Indian subcontinent, Southeast Asia, and the Mediterranean region (Fucharoen and Winichagoon 2007; AlHamdan et al. 2007; Sarper et al. 2009). Thalassemia is a common disease in Iran with higher frequencies in the north and south parts of the country (Haddow 2005; Samavat and Modell 2004; Moafi et al. 2010).

Thalassemia major leads to serious medical, social, and economic problems for patients and their families, and patient’s care represents a considerable financial burden for the public health budget (Verma et al. 2011; Langlois et al. 2008). After a 5-year pilot screening, the Iranian Ministry of Health approved in 1996 a mandatory national screening protocol for premarital testing. This program included a laboratory strategy to identify and counsel couples at risk providing support and care (Samavat and Modell 2004; Iranian Health 2004). Although compared to other regions, the Isfahan province can be considered an area at moderate prevalence; premarital screening was locally started in 1992 and gradually extended to the entire province by 1997 (Zeinalian et al. 2009). This report presents the results of the premarital screening program applied in the Isfahan province during the last two decades (1992–2010).

/pdf/two-decades-of-pre-marital-screening-for-beta-thalassemia-in-53gmuf6udv.pdf

Two decades of pre-marital screening for beta-thalassemia in central Iran.

SUMMARY Measurement of the Haemoglobin F in red cell haemolysates is important in the diagnosis of db thalassaemia, hereditary persistence of fetal haemoglobin (HPFH) and in the diagnosis and management of sickle cell disease. The distribution of Hb F in red cells is useful in the diagnosis of HPFH and in the assessment of fetomaternal haemorrhage. The methods of quantifying Hb F are described together with pitfalls in undertaking these laboratory tests with particular emphasis on automated high-performance liquid chromatography and capillary electrophoresis.

/pdf/icsh-recommendations-for-the-measurement-of-haemoglobin-f-4tgr9t5hga.pdf

ICSH recommendations for the measurement of haemoglobin F.

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ICSH recommendations for the measurement of haemoglobin F.