Haemoglobin (Hb) K Woolwich is a rare Hb variant which was first described in a family from West Indies and its occurrence was later reported mainly in Black families from many African countries. We report a case of a young male who came for evaluation of anemia. His complete blood count showed hypochromic, microcytic anemia and his serum ferritin was low. Hb electrophoresis done as part of initial workup showed an abnormal band which moved faster than HbA. For further evaluation, Hb analysis by high performance liquid chromatography was subsequently performed and revealed Hb K Woolwich. This is a rare Hb variant recognized in Pakistani population for the first time through careful interpretation of the chromatographic behavior of the H

Ali, Natasha

Ali, Sidra Asad

English

Haemoglobin (Hb) K Woolwich is a rare Hb variant which was first described in a family from West Indies and its occurrence was later reported mainly in Black families from many African countries. We report a case of a young male who came for evaluation of anemia. His complete blood count showed hypochromic, microcytic anemia and his serum ferritin was low. Hb electrophoresis done as part of initial workup showed an abnormal band which moved faster than HbA. For further evaluation, Hb analysis by high performance liquid chromatography was subsequently performed and revealed Hb K Woolwich. This is a rare Hb variant recognized in Pakistani population for the first time through careful interpretation of the chromatographic behavior of the Hb

Ali, Natasha Bahadur

eCommons@AKU

eCommons@AKUDepartment of Pathology and Laboratory Medicine Medical College, PakistanOctober 2015A rare haemoglobin variant identified as kwoolwich in a Pakistani maleSidra Asad AliNatasha AliAga Khan UniversityFollow this and additional works at: http://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiolPart of the Microbiology Commons, and the Pathology CommonsRecommended CitationAli, S., Ali, N. (2015). A rare haemoglobin variant identified as k woolwich in a Pakistani male. JCPSP: Journal of the College ofPhysicians and Surgeons Pakistan, 25(2), 100-101.Available at: http://ecommons.aku.edu/pakistan_fhs_mc_pathol_microbiol/464S100 Journal of the College of Physicians and Surgeons Pakistan 2015, Vol. 25 (Special Supplement 2 of Case Reports): S100-S101INTRODUCTIONThe inherited disorders of Haemoglobin (Hb) are themost common single gene disorders with approximately7% of the world's population being carriers.1 Hb variantsare abnormal Hbs that in most cases are produced as aresult of single point mutation of the amino acidsequence. Over 1100 of these mutant Hbs have beendescribed according to database of human Hb variantsand more than 800 of them involve beta chain.2Hb K Woolwich is a result of substitution of lysine byglutamine in beta chain (β132 Lys-Gln) at codon 132. Itwas first described by Cabannes and Buhr as fastvariant of normal adult Hb.3 The family in which this HbK was first observed came from West Indies and was ofAfrican ancestry. It was noted at Woolwich, England andhence named as Hb K Woolwich.4 Subsequently reportsfrom Nigeria, Ghana and Ivory Coast were described.4-6CASE REPORTWe present a case of 32-year old male who came tohaematology clinic for evaluation of anemia. He hadcomplains of weakness, epigastric pain and easyfatigability for past 3 months. His personal history wassignificant for beetle nut chewing while past history andfamily history was otherwise unremarkable. Examinationrevealed pallor only. Complete blood count showedhaemoglobin 6.1 g/l, Mean Corpuscular Volume (MCV)57.7 fl Mean Corpuscular Haemoglobin (MCH) 16.4 pg,white blood cell count, 9.1 x 109/l and platelets 325 x109/l. Peripheral smear showed hypochromic, microcyticerythrocytes and pencil cells while thrombocytes andwhite blood cells were normal on film. Considering theperipheral film findings, his serum ferritin was done andit was 3.1 ng/ml.Hb gel electrophoresis done as a part of initial workup ofanemia showed an abnormal band moving faster thanHbA and was reported as Hb H performed outside ourinstitution and was not confirmed on High PerformanceLiquid Chromatography (HPLC).Hence for further evaluation, we performed Hb analysisby HPLC on BIORAD VARIANT II and a peak at P2region with retention time of 1.28 minutes was identifiedwhich comprised 22.1% of total Hb (Figure 1). Thefindings were suggestive of Hb K Woolwich. However,amino acid sequencing and nucleic acid sequencingcould not be performed due to non-availability of thesetests at our setup.HPLC of his father was subsequently performed and italso showed peak at same region with retention time ofCASE REPORTA Rare Haemoglobin Variant Identified as K Woolwich in a Pakistani MaleSidra Asad Ali and Natasha AliABSTRACTHaemoglobin (Hb) K Woolwich is a rare Hb variant which was first described in a family from West Indies and itsoccurrence was later reported mainly in Black families from many African countries. We report a case of a young malewho came for evaluation of anemia. His complete blood count showed hypochromic, microcytic anemia and his serumferritin was low. Hb electrophoresis done as part of initial workup showed an abnormal band which moved faster than HbA.For further evaluation, Hb analysis by high performance liquid chromatography was subsequently performed and revealedHb K Woolwich. This is a rare Hb variant recognized in Pakistani population for the first time through careful interpretationof the chromatographic behavior of the Hb.Key Words: Haemoglobin K Woolwich.   High performance liquid chromatography.   Haemoglobin electrophoresis.Department of Pathology and Laboratory Medicine, The AgaKhan University, Karachi.Correspondence: Dr. Natasha Ali, Assistant Professor,Section of Hematology, Department of Pathology and LaboratoryMedicine/Oncology, The Aga Khan University, Stadium Road,Karachi-74800.E-mail: natasha.ali@aku.eduReceived: July 05, 2014;   Accepted: August 11, 2015.Figure 1: Haemoglobin analysis of patient by HPLC showing a peak atretention time of 1.28 minutes (indicated by arrow) which comprised 22.1%of total haemoglobin and was identified as Hb K Woolwich. A rare haemoglobin variant identified as K Woolwich1.31 minutes comprising 24.8% of total Hb (Figure 2).Quality Control (QC) of HPLC is maintained through LJchart by running daily controls and calibrators which areprovided by the vendor. The patient was started on Tab.Ferrous Sulphate 200 mg twice a day to which heresponded and his Hb improved 10.7 g/dl.DISCUSSIONHb K Woolwich is a stable beta chain variant whichoccurs in people of the Akan group in West Africa and itis predominant in the Attie subgroup. In 1974, Lang et al.suggested that the β-K Woolwich gene behaved as a β+-thalassaemia gene, on the basis of results from a familyof elevated levels of HbA2 in heterozygotes and thereduced synthesis rate of the βKW chains in relation tothe βA chains in one case.7 However, later Cabanneset al. described a family with 6 heterozygotes and singlehomozygote who had no clinical and haematologicalabnormality.6 This subject remains controversial and noother study of globin chain synthesis was reported till1986 when Zago et al. presented haematologicalcharacterization of a Brazilian Negro family with 6 Hb KWoolwich heterozygotes, and the measurement of therate of globin chain synthesis as well which proved to benormal and their results demonstrated that there was noglobin chain synthesis imbalance.8It is a silent abnormality with no clinical manifestationand is found in combination with Hb S9, Hb C10, alpha-,and beta+-thalassaemia. The expression of Hb KWoolwich with other beta chain variants also does notproduce any symptoms in an affected individual.The use of Hb electrophoresis by conventional geltechnique may falsely label fast moving Hbs as Hb Hand miss the diagnosis leading to underreporting of rareHb variants as was the case in our patient.Literature review has revealed that studies or casereports from this part of the world have not beenreported yet and the prevalence of Hb K Woolwich in ourpopulation needs to be accredited. Reports like this mayact as an awareness tool for physicians regardingabnormal variants which may be important inhaemoglobinopathy screening program. It may also actas database for future studies in the region.This case emphasizes the importance of identifyingabnormal Hb variants, which may be missed byconventional gel technique of Hb electrophoresis. Therecognition of Hb abnormalities is of anthropologicalinterest given their ethnic specificity.REFERENCES1. Thein SL, Rees D. Haemoglobin and the inherited disorders ofglobin synthesis. Postgrad Haematol 2011; 6:83-108.2. Var H. A database of human haemoglobin variants andthalassaemias. http://globin.bx.psu.edu/hbvar/menu.html.3. Cabannes R, Buhr L. [A new human hemoglobin fraction withan electrophoretic migration more rapid than hemoglobin A andslower than hemoglobin H; preliminary note]. Pediatrie 1955;10:888-9.4. Allan N, Beale D, Irvine D, Lehmann H. Three haemoglobins K:Woolwich, an abnormal, Cameroon and Ibadan, two unusualvariants of human haemoglobin A. Nature 1965; 208:658-61.5. Ringelhann B, Konotey-Ahulu FI, Talapatra NC, Nkrumah FK,Wiltshire BG, Lehmann H. Haemoglobin K Woolwich (alpha 2,beta 2 132 lysine leads to glutamine) in Ghana. Acta Haematol1971; 45:250-8.6. Cabannes R, Amegnizin P, Sangare A, Arne D, Casey R,Lehmann H. Haemoglobin K Woolwich: a study of the family ofa homozygote. J Med Genet 1980; 17:183-6.7. Lang A, Lehmann H, King-Lewis PA. Hb K Woolwich the causeof a thalassaemia. Nature 1974; 249:467-9.8. Zago MA, Costa FF, Greene LJ, Bottura C. Balanced globinsynthesis by Hb K Woolwich heterozygotes. Br J Haematol1986; 64:207-10.9. Sharma R, Rhodes M, Varga E. Hemoglobin K-Woolwich (HbKW): Its combination with sickle cell trait. Open J Pathol 2014;4:110-5.10. Molez JF, Galacteros F, Bosseno MF, Haudrechy DEK. A caseof a combination heterozygote with haemoglobin K Woolwichand haemoglobin C (Hb Kw/HbC) discovered in Bobo-Dioulasso (Burkina Faso). Med Trop (Mars) 1989; 49:33-6.Figure 2: Haemoglobin analysis of patient's father by HPLC showing a peakat same region with retention time of 1.31 minutes (indicated by arrow)comprising 24.8% of total haemoglobin.Journal of the College of Physicians and Surgeons Pakistan 2015, Vol. 25 (Special Supplement 2 of Case Reports): S100-S101 S101

A rare haemoglobin variant identified as K Woolwich in a Pakistani male

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A rare haemoglobin variant identified as k woolwich in a Pakistani male

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