Case history of a child with sickle cell anemia in India

Author:  Reena Das; Diksha Dev Yadav; Prashant Sharma; Amita Trehan, 10/01/2019

A three years old male child, native of Jharkhand, Central India presented with
mild pallor, icterus, and history of on and off abdominal and joint pains. On examination
the child had mild splenomegaly. He had history of two prior hospital admissions. First
at the age of 1 year, when he was diagnosed to have pneumonia and second, at the
age of 3 years (3 months prior to coming to our institution) for fever, anemia and
jaundice. He has had three transfusions till now, last transfusion was 3 months back.
There is history of sibling death at 5 years of age due to fever and jaundice.

The hemogram showed anemia with leukocytosis. Red cell morphology revealed
severe anisopoikilocytosis with macrocytes, microcytic hypochromic red cells, target
cells, many boat cells, sickled RBCs, polychromatic cells and occasional nucleated
RBCs. Results of the automated blood cell counts showed Hb 7.7 g/dl, RBC 2.44 x
109/l, MCV 97.1 fl, MCH 31.4 pg, MCHC 32.3 g/dl, RDW 26.6%. There were occasional
nucleated red cells and relative neutrophilia. Further to confirm HbS, a sickling test
using freshly prepared 2% sodium meta-bisulphite was performed which was positive.

Hemoglobin HPLC on Bio-Rad Variant 2 showed raised fetal hemoglobin (HbF)

and a variant peak in S window (71.9%) at retention time of 4.36 mins. Adult Hb (HbA)
of 8.5% was noted (Figure 3). Figure 4 shows Cellulose acetate hemoglobin
electrophoresis at alkaline pH (8.6), which showed a prominent band in S/D/G region
and a faint band in F region. Investigations of the father showed also showed a variant
peak in S window (32.9%) at retention time of 4.36 mins along with HbA (57.1%) on
HPLC with Bio-Rad Variant II which is diagnostic of Sickle cell trait. 

DISCUSSION

Sickle cell disease (SCD) is the most common symptomatic hemoglobinopathy

caused as a result of inheritance of two copies of the sickle β-globin gene variant (βS).
A single nucleotide substitution leading to replacement of glutamic acid by valine at
position 6 of the β-globin polypeptide chain leads to formation of HbS which is
responsible for disease manifestation.  SCD has a wide geographical distribution
throughout major parts of Africa, the Middle East, India and in some regions of
Mediterranean countries. In India, it is mainly concentrated in the central region
including parts of Madhya Pradesh, Chattisgarh, Orissa, Maharashtra, Gujrat and
Jharkhand. HbS has carrier frequencies varying from 5 to 35% and are especially seen
amongst the scheduled tribes, scheduled castes and other backward castes.

Sickle cell mutation is believed to be originated five times in history

spontaneously. This can be elucidated by five βS-globin haplotypes. These haplotypes
include Senegal (SEN), Benin (BEN), Bantu or the Central African Republic (CAR),
Cameroon (CAM) and Arab-Indian (ARAB). They enable us to understand the origin,
evolution, migration and natural selection of genetic defects. They can be identified by
specific restriction sites within the β-globin gene cluster. Different haplotypes are known
to have different HbF levels. Senegal and Arab-Indian haplotypes have higher HbF
levels when compared to other haplotypes. However, recently a study has investigated
the origins of the sickle mutation by using whole-genome-sequence data to conclude
that there might be single origin of sickle allele.

 LEARNING POINTS

1.    Sickle cell disease (SCD) is the most common symptomatic hemoglobinopathy in
the world, largely seen in parts of Africa, the Middle East, India and in some regions of
Mediterranean countries.

2.    SCA is a monogenic disorder with an autosomal recessive inheritance. The parents
are clinically asymptomatic and have normal blood counts. They are usually diagnosed
incidentally or as a result of family studies in SCA patients.

3.    Neonates are asymptomatic due to high HbF, but symptoms begin to appear by six
months of age. Many infants present with lethal complications at first presentation. This
emphasizes the importance of newborn screening in these susceptible pre-symptomatic
cases in endemic regions.

4.    SCA has a variable clinical course amongst different individuals depending upon
various genetic determinants like βs haplotype, factors affecting HbF levels and co-
inheritance of other disease modifying factors.

5.    Diagnosis mainly relies upon identification of HbS (by any of the following HPLC,
Hb Electrophoresis, Iso-electric focusing or sickling test). Once HbS is identified, it has
to be validated by alternative method.

6.    Treatment of sickle cell disease generally aims at relieving symptoms and
preventing infections, sickle cell crises and long-term complications. Stem cell
transplant is the only potential cure available presently.
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DEPARTMENT OF NURSING

Name: MACARAIG, MARIE KELSEY A. Instructor: Melanio P. Rojas Jr MAN Score: _________
Section/Year Level: ___BSN-III_________ Date: ____11/12/21______________________

Organization 45 %

Content 50%

Relevance of the 5%
topic in Nursing

Total 100%

Case history of a child with sickle cell anemia in India

I. Introduction

Sickle cell disease is an inherited blood condition which is most common

among people of African, Arabian, and Indian origin. Sickle cell disease

(SCD) is the world's most common genetic blood disorder, caused by a single

DNA mutation in the beta globin gene. There is gene flow from high allele

frequency areas of Sub-Saharan Africa, the Middle East, and India to Europe

and portions of America as a result of recent population changes. As a result,

large sickle cell populations have emerged in previously unaffected parts of

the globe. Every year, some 300,000 children are born with sickle cell anemia

or one of its subtypes, with nearly 80% of these births taking place in low-

income countries.

The article educated me regarding the laboratory results and health

history that may indicate early onset signs of Sickle cell disease which is

relevant to our topic in medical surgery. It added to my understanding how

 SCD happens to an individual and how it affects them. I also learned that

relationship of the geographical location and origan to the disease and how it

is prevalent in African, India, and European countries.

II. Possible Issues/Concern

In the case, even children are affected by such disease. For me, I think

the child is too young and unfortunate to experience such disease. According

to studies, the incidence of sickle cell disease are born with sickle cell

disease. I think they should treat immediately to prevent it from aggravating

their condition.

III. Solution

For me, as early as possible genetic counseling, newborn screening, and

early diagnosis are all important aspects of SCD management, as are

vaccines, anti-malarial drugs, antibiotics, and hydroxyurea. Several authors

have suggested that prenatal screening and diagnosis could reduce the

burden of haemoglobinopathies in poor resource countries (Kafando et al.,

2005, Weatherall, 2011). Rahimy and colleagues claimed in 2014 that the

implementation of newborn screening in the industrialized world 20 years ago

reduced the mortality rate for SCD from 16% to >1%. (Rahimy et al., 2014).

Children with SCD will need to receive routine immunizations based on the

country-specific guidelines.

IV. Conclusion

The article educated me regarding the laboratory results and health

history that may indicate early onset signs of Sickle cell disease which is
 relevant to our topic in medical surgery. It added to my understanding how

SCD happens to an individual and how it affects them. I also learned that

relationship of the geographical location and origan to the disease and how it

is prevalent in African, India, and European countries. For me, as early as

possible genetic counseling, newborn screening, and early diagnosis are all

important aspects of SCD management, as are vaccines, anti-malarial drugs,

antibiotics, and hydroxyurea. Thus, reduce the possibilities that children will

be able to live without Sickle Cell Disease.

V. Reference/s:

Colah, R., Mukherjee, M., & Ghosh, K. (2014). Sickle cell disease in India. Current Opinion In
Hematology, 21(3), 215-223. doi: 10.1097/moh.0000000000000029

Roshan B. Colah, K. (2015). Sickle cell disease in tribal populations in India.  The
Indian Journal Of Medical Research, 141(5), 509. Retrieved from
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510747/

Indian Pediatrics - Original Articles. (2021). Retrieved 15 November 2021, from

https://www.indianpediatrics.net/april2000/april-391-396.htm